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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:histiocytosis
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Accession:DOID:3405 term browser browse the term
Definition:A lymphatic system disease that is characterized by an excessive number of histiocytes. (DO)
Synonyms:exact_synonym: Hand Schuller Christian disease;   chronic histiocytosis X;   histiocytoses
 primary_id: MESH:D015614
 xref: NCI:C3106
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238637 NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482 		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 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 chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482 		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:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 More... NCBI chr  X:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis | ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 More... NCBI chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		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 chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:14622600 PMID:16278825 PMID:16778144 PMID:16825436 More... NCBI chr17:69,777,570...69,794,877
Ensembl chr17:75,328,572...75,344,842 		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 chr10:66,879,744...66,903,027
Ensembl chr10:69,406,745...69,423,249 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with lymphocytic choriomeningitis
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:		 RGD PMID:26518437 RGD:11343232
G IL33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:66,906,866...66,916,938
Ensembl chr10:69,433,959...69,443,972 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:66,951,864...67,042,769
Ensembl chr10:69,478,636...69,569,130 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to OMIM
ClinVar		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		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 ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
DNA:deletions, insertion, snps:exons, intron:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chr17:69,777,570...69,794,877
Ensembl chr17:75,328,572...75,344,842 		JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,271,678...141,288,241
Ensembl chr 6:145,992,631...146,009,163 		JBrowse link
G LTV1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,618,967...141,639,525
Ensembl chr 6:146,340,044...146,359,171 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,226,738...141,266,233
Ensembl chr 6:145,947,954...145,987,188 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,312,850...141,602,868
Ensembl chr 6:146,174,399...146,323,625 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,715,599...141,841,862
Ensembl chr 6:146,435,622...146,480,224 		JBrowse link
G SF3B5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,873,848...141,874,584
Ensembl chr 6:146,594,201...146,594,461 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition OMIM
ClinVar		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		JBrowse link
G ZC2HC1B zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:141,640,149...141,713,802
Ensembl chr 6:146,360,081...146,433,469 		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 chr19:6,885,979...6,908,067
Ensembl chr19:7,749,945...7,763,056 		JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,307,109...7,363,983
Ensembl chr19:8,208,273...8,217,780 		JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,042,033...7,047,350 JBrowse link
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,587,760...7,594,055
Ensembl chr19:8,438,955...8,445,464 		JBrowse link
G CERS4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,509,213...7,562,394
Ensembl chr19:8,364,569...8,415,345 		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 chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631 		JBrowse link
G CTXN1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,225,738...7,227,412
Ensembl chr19:8,079,181...8,079,429 		JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137 		JBrowse link
G EVI5L ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,132,274...7,167,051
Ensembl chr19:7,985,803...8,018,455 		JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,366,530...7,450,545
Ensembl chr19:8,222,701...8,305,586 		JBrowse link
G FCER2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924 		JBrowse link
G LOC100978434 C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr19:6,919,469...6,921,359 JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,189,490...7,203,310
Ensembl chr19:8,041,185...8,055,684 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G MCEMP1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,966,022...6,969,354
Ensembl chr19:7,821,177...7,827,590 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093 		JBrowse link
G PCP2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr19:6,921,350...6,923,618
Ensembl chr19:7,776,331...7,779,241 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241 		JBrowse link
G RETN resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909 		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 chr19:7,221,613...7,224,501
Ensembl chr19:8,074,290...8,076,662 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chr 6:141,924,656...141,974,579
Ensembl chr 6:146,688,670...146,689,533 		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 OMIM
ClinVar		 PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 More... NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		JBrowse link
G TGFBR3L transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,216,766...7,220,394
Ensembl chr19:8,070,344...8,072,052 		JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479 		JBrowse link
G TRAPPC5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,970,318...6,972,378 JBrowse link
G XAB2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:6,909,281...6,919,332
Ensembl chr19:7,764,264...7,774,305 		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 finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar		 PMID:25741868 NCBI chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402 		JBrowse link
follicular dendritic cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma ClinVar PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More... NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		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 chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319 		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 chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290 		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 chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797 		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 OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 | ClinVar Annotator: match by term: MLPH-related condition OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr2B:124,716,573...124,781,829
Ensembl chr2B:243,569,782...243,633,177 		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 chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319 		JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO MouseDO NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352 		JBrowse link
G IL18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G PRF1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO MouseDO NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		JBrowse link
histiocytic sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12727634 More... NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043 		JBrowse link
G IFTAP intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chr11:36,560,918...36,623,870
Ensembl chr11:36,433,630...36,496,483 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904 		JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chr10:14,882,491...14,907,724
Ensembl chr10:15,211,360...15,237,097 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC29A3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482 		JBrowse link
Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO OMIM:246400 | OMIM:604856 MouseDO NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
malignant histiocytic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO MouseDO NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336 		JBrowse link
Niemann-Pick disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO DNA:mutation:multiple RGD
MouseDO		 PMID:11567215 RGD:1601483 NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 susceptibility ISO 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 | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency		 RGD
ClinVar		 PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:8664904 More... RGD:1601336 NCBI chr11:6,521,812...6,526,349 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:12369017 PMID:15221801 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 disease_progression ISO protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 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 LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,521,812...6,526,349 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:12369017 PMID:15221801 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,521,812...6,526,349 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, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,888,915...14,944,295
Ensembl chr18:18,527,364...18,578,736 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		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 chr14:55,604,853...55,621,133 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 chr18:16,850,341...16,914,767
Ensembl chr18:20,475,728...20,539,300 		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 chr18:16,384,305...16,508,915 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 chr18:15,656,824...15,659,668 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 chr18:14,767,377...14,839,978 JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:15,411,764...15,444,402 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 chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		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 chr18:16,941,316...17,208,363
Ensembl chr18:20,565,649...20,831,957 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		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 chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813 		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 chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		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 chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		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 chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522 		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 chr18:16,703,893...16,734,160
Ensembl chr18:20,331,222...20,360,825 		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 chr18:16,754,469...16,783,381
Ensembl chr18:20,380,579...20,409,314 		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 chr11:6,521,812...6,526,349 JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G SYNDIG1L synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chr14:54,957,901...54,978,582
Ensembl chr14:73,805,990...73,826,055 		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 chr18:16,464,723...16,689,144
Ensembl chr18:20,173,513...20,316,638 		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 chr14:55,604,853...55,621,133 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		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 chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		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 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 chr11:6,521,812...6,526,349 JBrowse link
non-Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRF1 perforin 1 ISO DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 RGD PMID:11179007 RGD:1599929 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070 		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 chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		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 ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		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 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      immune system disease 4677
        lymphatic system disease 1693
          histiocytosis 90
            Familial Lipochrome Histiocytosis 0
            Langerhans-cell histiocytosis + 1
            Progressive Mucinous Histiocytosis 0
            histiocytosis-lymphadenopathy plus syndrome 1
            malignant histiocytic disease + 8
            non-Langerhans-cell histiocytosis + 82
Path 2
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      Immune & Inflammatory Diseases 5254
        immune system disease 4677
          lymphatic system disease 1693
            histiocytosis 90
              Familial Lipochrome Histiocytosis 0
              Langerhans-cell histiocytosis + 1
              Progressive Mucinous Histiocytosis 0
              histiocytosis-lymphadenopathy plus syndrome 1
              malignant histiocytic disease + 8
              non-Langerhans-cell histiocytosis + 82
paths to the root