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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:non-Langerhans-cell histiocytosis
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Accession:DOID:4330 term browser browse the term
Definition:A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. (DO)
Synonyms:exact_synonym: Xanthoma Disseminatum
 primary_id: MESH:D015616
 xref: GARD:8231
For additional species annotation, visit the Alliance of Genome Resources.



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non-Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prf1 perforin 1 (pore forming protein) ISO DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 RGD PMID:11179007 RGD:1599929 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) RGD PMID:12531900 RGD:1601587 NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr10:60,547,851...60,588,624
Ensembl chr10:60,547,851...60,588,573
JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:19377476 PMID:19687455 PMID:22523091 PMID:25741868 PMID:26467025 More... NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:12,813,961...12,840,242
Ensembl chr10:12,813,953...12,840,042
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:14622600 PMID:16778144 PMID:16825436 PMID:20823128 PMID:21248318 More... NCBI chr11:115,952,921...115,969,321
Ensembl chr11:115,952,921...115,968,787
JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:61,268,276...61,288,448
Ensembl chr10:61,264,270...61,288,440
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment IEP
IMP
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: RGD PMID:26518437 PMID:26518437 RGD:11343232, RGD:11343232 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
JBrowse link
G Il33 interleukin 33 IEP associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Lifr LIF receptor alpha ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:14740318 PMID:28492532 NCBI chr15:7,120,091...7,226,970
Ensembl chr15:7,120,095...7,226,970
JBrowse link
G Nodal nodal ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:61,155,435...61,219,325
Ensembl chr10:61,155,435...61,219,309
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO
IAGP
DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM:603553
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... RGD:6482809 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc13d unc-13 homolog D susceptibility ISO
IAGP
DNA:deletions, insertion, snps:exons, intron:multiple (human)
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
CTD Direct Evidence: marker/mechanism
OMIM:608898
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chr11:115,952,921...115,969,321
Ensembl chr11:115,952,921...115,968,787
JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 fucosidase, alpha-L- 2, plasma ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:13,376,314...13,394,779
Ensembl chr10:13,375,284...13,394,779
JBrowse link
G Hymai hydatidiform mole associated and imprinted transcript ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:12,966,589...12,971,644 JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:13,054,341...13,068,881
Ensembl chr10:13,053,884...13,068,912
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:13,399,586...13,428,886
Ensembl chr10:13,399,586...13,428,886
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:13,083,461...13,350,266
Ensembl chr10:13,083,461...13,350,156
JBrowse link
G Plagl1 pleiomorphic adenoma gene-like 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:12,966,576...13,007,438
Ensembl chr10:12,936,248...13,007,438
JBrowse link
G Sf3b5 splicing factor 3b, subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:12,884,194...12,884,927
Ensembl chr10:12,881,087...12,884,927
JBrowse link
G Stx11 syntaxin 11 ISO
IAGP
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
CTD Direct Evidence: marker/mechanism
OMIM:603552
OMIM
ClinVar
CTD
MouseDO
PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chr10:12,813,961...12,840,242
Ensembl chr10:12,813,953...12,840,042
JBrowse link
G Zc2hc1b zinc finger, C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr10:13,025,388...13,053,782
Ensembl chr10:13,025,284...13,053,767
JBrowse link
familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap3 calmodulin regulated spectrin-associated protein family, member 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,637,237...3,659,075
Ensembl chr 8:3,637,293...3,659,075
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,375,207...4,410,020
Ensembl chr 8:4,375,210...4,410,020
JBrowse link
G Cd209b CD209b antigen ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
JBrowse link
G Cd320 CD320 antigen ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr17:34,062,065...34,068,748
Ensembl chr17:34,062,065...34,068,748
JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,542,863...4,579,603
Ensembl chr 8:4,543,026...4,581,680
JBrowse link
G Clec4g C-type lectin domain family 4, member g ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,757,066...3,770,695
Ensembl chr 8:3,757,064...3,770,651
JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,307,646...4,309,274
Ensembl chr 8:4,307,660...4,309,274
JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413
JBrowse link
G Evi5l ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,216,523...4,258,089
Ensembl chr 8:4,216,567...4,261,257
JBrowse link
G Fcer2a Fc receptor, IgE, low affinity II, alpha polypeptide ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,730,280...3,744,174
Ensembl chr 8:3,731,737...3,744,175
JBrowse link
G Lrrc8e leucine rich repeat containing 8 family, member E ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,274,269...4,287,470
Ensembl chr 8:4,276,827...4,287,470
JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
JBrowse link
G Mcemp1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,715,754...3,718,916
Ensembl chr 8:3,715,754...3,719,259
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Pcp2 Purkinje cell protein 2 (L7) ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,673,369...3,675,547
Ensembl chr 8:3,673,371...3,675,545
JBrowse link
G Pet100 PET100 homolog ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,671,551...3,674,235
Ensembl chr 8:3,671,548...3,675,848
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
JBrowse link
G Snapc2 small nuclear RNA activating complex, polypeptide 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,303,102...4,306,220
Ensembl chr 8:4,303,080...4,306,220
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chr10:12,813,961...12,840,242
Ensembl chr10:12,813,953...12,840,042
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 More... NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
JBrowse link
G Tgfbr3l transforming growth factor, beta receptor III-like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,297,994...4,301,528
Ensembl chr 8:4,298,214...4,301,423
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:4,309,731...4,325,905
Ensembl chr 8:4,309,731...4,325,913
JBrowse link
G Trappc5 trafficking protein particle complex 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,726,477...3,730,921
Ensembl chr 8:3,726,299...3,731,255
JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 8:3,660,089...3,671,311
Ensembl chr 8:3,658,421...3,671,316
JBrowse link
Familial Hemophagocytic Lymphohistiocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rc3h1 RING CCCH (C3H) domains 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar
PMID:25741868 NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1
OMIM:214450
OMIM
CTD
ClinVar
MouseDO
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 9:72,892,692...72,923,622
Ensembl chr 9:72,892,711...72,923,622
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346
JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 9:72,886,999...72,892,658
Ensembl chr 9:72,886,964...72,892,674
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr 9:72,920,639...72,946,973
Ensembl chr 9:72,914,701...72,947,660
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970
JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 antigen ISO protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
JBrowse link
G Elp1 elongator complex protein 1 IAGP MouseDO NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 IMP RGD PMID:26914138 RGD:11529541 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Prf1 perforin 1 (pore forming protein) IMP associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
JBrowse link
G Rab27a RAB27A, member RAS oncogene family IAGP MouseDO NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
JBrowse link
Niemann-Pick disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase IEP protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO
IAGP
MouseDO
RGD
PMID:11567215 RGD:1601483 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO
IAGP
MouseDO
RGD
PMID:11567215 RGD:1601483 NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal susceptibility ISO
IAGP
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12631268 PMID:15221801 More... RGD:1601336 NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr 7:105,207,691...105,231,151
Ensembl chr 7:105,207,690...105,230,860
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 disease_progression IEP protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
Niemann-Pick disease type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr 7:105,207,691...105,231,151
Ensembl chr 7:105,207,690...105,230,860
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B ClinVar PMID:25741868 PMID:28492532 PMID:29485843 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
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 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:10,644,411...10,706,784
Ensembl chr18:10,642,092...10,706,771
JBrowse link
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase treatment IMP RGD PMID:18591368 RGD:10047095 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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 chr12:85,319,172...85,335,257
Ensembl chr12:85,319,172...85,335,212
JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:12,385,414...12,439,067
Ensembl chr18:12,385,419...12,438,854
JBrowse link
G Cables1 CDK5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:11,972,600...12,078,681
Ensembl chr18:11,972,277...12,078,687
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 chr18:10,566,507...10,610,863
Ensembl chr18:10,566,507...10,610,352
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
G Jak2 Janus kinase 2 treatment IDA RGD PMID:21176403 RGD:10403054 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
JBrowse link
G Lama3 laminin, alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lipa lysosomal acid lipase A ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
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 chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704
JBrowse link
G Mir133a-1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:10,782,909...10,782,976
Ensembl chr18:10,782,909...10,782,976
JBrowse link
G Mir1a-2 microRNA 1a-2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:10,785,481...10,785,552
Ensembl chr18:10,785,481...10,785,552
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO
IAGP
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
OMIM
ClinVar
MouseDO
CTD
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
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 chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926
JBrowse link
G Rbbp8 retinoblastoma binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278
JBrowse link
G Riok3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:12,259,114...12,290,424
Ensembl chr18:12,261,798...12,290,444
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:28492532 NCBI chr18:12,301,746...12,331,732
Ensembl chr18:12,301,774...12,323,715
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:10,617,796...10,628,230
Ensembl chr18:10,617,775...10,642,079
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA RGD PMID:21176403 RGD:10403054 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
JBrowse link
G Syndig1l synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar NCBI chr12:84,724,051...84,745,720
Ensembl chr12:84,724,051...84,745,605
JBrowse link
G Tmem241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:12,113,193...12,254,604
Ensembl chr18:12,097,507...12,254,594
JBrowse link
Niemann-Pick disease type C2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chr12:85,319,172...85,335,257
Ensembl chr12:85,319,172...85,335,212
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926
JBrowse link
Niemann-Pick Disease Type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D ClinVar
OMIM
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
sea-blue histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis
CTD
OMIM
ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 More... NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
Sinus Histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr10:60,547,851...60,588,624
Ensembl chr10:60,547,851...60,588,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      immune system disease 4459
        lymphatic system disease 1637
          histiocytosis 92
            non-Langerhans-cell histiocytosis 84
              Erdheim-Chester disease 0
              Niemann-Pick disease + 27
              Sinus Histiocytosis + 1
              adult xanthogranuloma 0
              hemophagocytic lymphohistiocytosis + 55
              juvenile xanthogranuloma 0
              multicentric reticulohistiocytosis 0
              reticulohistiocytic granuloma 0
              sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Immune & Inflammatory Diseases 5164
        immune system disease 4459
          lymphatic system disease 1637
            histiocytosis 92
              non-Langerhans-cell histiocytosis 84
                Erdheim-Chester disease 0
                Niemann-Pick disease + 27
                Sinus Histiocytosis + 1
                adult xanthogranuloma 0
                hemophagocytic lymphohistiocytosis + 55
                juvenile xanthogranuloma 0
                multicentric reticulohistiocytosis 0
                reticulohistiocytic granuloma 0
                sea-blue histiocytosis 1
paths to the root