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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.


show annotations for term's descendants           Sort by:
non-Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRF1 perforin 1 IAGP DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 RGD PMID:11179007 RGD:1599929 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) RGD PMID:12531900 RGD:1601587 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		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 IAGP ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		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 IAGP ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G LOC129997366 ATAC-STARR-seq lymphoblastoid silent region 17638 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar NCBI chr 6:144,150,204...144,150,643 JBrowse link
G PRF1 perforin 1 IAGP 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 chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G STX11 syntaxin 11 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 More... NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
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 chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G UNC13D unc-13 homolog D IAGP 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 chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		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 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:70,404,145...70,428,618
Ensembl chr10:70,404,145...70,428,618 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: RGD PMID:26518437 PMID:26518437 RGD:11343232, RGD:11343232 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G NODAL nodal growth differentiation factor IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr10:70,458,485...70,568,450
Ensembl chr10:70,478,767...70,668,754 		JBrowse link
G PRF1 perforin 1 IAGP
ISS
EXP		 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
OMIM:603553
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... RGD:6482809 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112533672 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73825830-73826818 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition		 ClinVar PMID:2978935 PMID:9536098 PMID:14622600 PMID:16199547 PMID:16278825 More... NCBI chr17:75,829,749...75,830,737 JBrowse link
G LOC130061690 ATAC-STARR-seq lymphoblastoid silent region 8988 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 ClinVar NCBI chr17:75,844,654...75,844,813 JBrowse link
G UNC13D unc-13 homolog D susceptibility IAGP
ISS
EXP		 DNA:deletions, insertion, snps:exons, intron:multiple (human)
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
OMIM:608898
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		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 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,494,812...143,511,720
Ensembl chr 6:143,494,812...143,511,720 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G LOC129997366 ATAC-STARR-seq lymphoblastoid silent region 17638 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar NCBI chr 6:144,150,204...144,150,643 JBrowse link
G LTV1 LTV1 ribosome biogenesis factor IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,843,338...143,863,812
Ensembl chr 6:143,843,338...143,863,812 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,536,878...143,831,185
Ensembl chr 6:143,536,845...143,831,185 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G SF3B5 splicing factor 3b subunit 5 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:144,094,884...144,095,573
Ensembl chr 6:144,094,884...144,095,573 		JBrowse link
G STX11 syntaxin 11 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition
OMIM:603552
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G ZC2HC1B zinc finger C2HC-type containing 1B IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 6:143,864,474...143,938,343
Ensembl chr 6:143,864,436...143,938,343 		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 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,595,863...7,618,304
Ensembl chr19:7,595,863...7,618,304 		JBrowse link
G CCL25 C-C motif chemokine ligand 25 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:8,052,341...8,062,650
Ensembl chr19:8,052,318...8,062,660 		JBrowse link
G CD209 CD209 molecule IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD320 CD320 molecule IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:8,302,127...8,308,358
Ensembl chr19:8,302,127...8,308,358 		JBrowse link
G CERS4 ceramide synthase 4 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:8,209,370...8,262,421
Ensembl chr19:8,206,736...8,262,433 		JBrowse link
G CLEC4G C-type lectin domain family 4 member G IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,728,957...7,732,110
Ensembl chr19:7,728,957...7,733,906 		JBrowse link
G CLEC4M C-type lectin domain family 4 member M IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605 		JBrowse link
G CTXN1 cortexin 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,924,491...7,926,135
Ensembl chr19:7,924,491...7,926,135 		JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,958,573...8,005,641
Ensembl chr19:7,958,573...8,005,659 		JBrowse link
G EVI5L ecotropic viral integration site 5 like IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,830,218...7,864,976
Ensembl chr19:7,830,218...7,864,976 		JBrowse link
G FBN3 fibrillin 3 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592 		JBrowse link
G FCER2 Fc epsilon receptor II IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146 		JBrowse link
G LOC130063381 ATAC-STARR-seq lymphoblastoid silent region 9989 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,644,064...7,644,113 JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,888,510...7,902,016
Ensembl chr19:7,888,505...7,902,021 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478 		JBrowse link
G MCEMP1 mast cell expressed membrane protein 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,677,090...7,679,829
Ensembl chr19:7,677,088...7,679,829 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G PCP2 Purkinje cell protein 2 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr19:7,631,615...7,637,006
Ensembl chr19:7,631,611...7,633,719 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G RETN resistin IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G SNAPC2 small nuclear RNA activating complex polypeptide 2 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,920,338...7,923,250
Ensembl chr19:7,920,338...7,923,250 		JBrowse link
G STX11 syntaxin 11 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP
EXP		 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 chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TGFBR3L transforming growth factor beta receptor 3 like IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,914,830...7,919,097
Ensembl chr19:7,914,830...7,919,097 		JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,926,718...7,943,666
Ensembl chr19:7,926,718...7,943,667 		JBrowse link
G TRAPPC5 trafficking protein particle complex subunit 5 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,680,833...7,687,703
Ensembl chr19:7,680,833...7,687,703 		JBrowse link
G XAB2 XPA binding protein 2 IAGP ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr19:7,619,525...7,629,545
Ensembl chr19:7,619,525...7,629,545 		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 IAGP ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar		 PMID:25741868 NCBI chr 1:173,931,084...174,022,357
Ensembl chr 1:173,931,084...174,022,357 		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 IAGP ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057087 ATAC-STARR-seq lymphoblastoid active region 9427 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,379,319...52,379,708 JBrowse link
G LOC130057090 ATAC-STARR-seq lymphoblastoid silent region 6447 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,528,530...52,529,409 JBrowse link
G MYO5A myosin VA IAGP
ISS
EXP		 ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by term: MYO5A-related condition
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
OMIM:214450
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		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 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,408,495...55,418,798
Ensembl chr15:55,408,495...55,418,798 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP
EXP		 ClinVar Annotator: match by term: PAID SYNDROME
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | 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 chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6811 microRNA 6811 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:25741868 NCBI chr 2:237,510,931...237,510,988
Ensembl chr 2:237,510,931...237,510,988 		JBrowse link
G MLPH melanophilin IAGP
EXP		 ClinVar Annotator: match by term: MLPH-related condition
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322 		JBrowse link
G MYO5A myosin VA IAGP ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule IEP protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISS MouseDO NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790 		JBrowse link
G IL18 interleukin 18 IEP associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G PRF1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISS MouseDO NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		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 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414 		JBrowse link
G LOC130005193 ATAC-STARR-seq lymphoblastoid silent region 3099 IAGP ClinVar Annotator: match by term: Niemann-Pick disease
ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY		 ClinVar PMID:12369017 PMID:15221801 PMID:24767253 PMID:25741868 PMID:28475290 More... NCBI chr11:6,390,191...6,390,690 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 TAS
IAGP
ISS		 ClinVar Annotator: match by term: Niemann-Pick disease ClinVar
MouseDO
RGD		 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... RGD:1601483 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
ISS		 DNA:mutation:multiple MouseDO
RGD		 PMID:11567215 RGD:1601483 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 susceptibility IAGP
ISS
EXP		 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: SPHINGOMYELINASE DEFICIENCY
ClinVar Annotator: match by term: Niemann-Pick disease
ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:8664904 More... RGD:1601336 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		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 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414 		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 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G LOC130005193 ATAC-STARR-seq lymphoblastoid silent region 3099 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
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: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis		 ClinVar PMID:8053910 PMID:12369017 PMID:12556236 PMID:15221801 PMID:15241805 More... NCBI chr11:6,390,191...6,390,690 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 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: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP
EXP		 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
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		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 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414 		JBrowse link
G LOC130005193 ATAC-STARR-seq lymphoblastoid silent region 3099 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar Annotator: match by term: Niemann-Pick disease, type B		 ClinVar PMID:8053910 PMID:12369017 PMID:12556236 PMID:15221801 PMID:15241805 More... NCBI chr11:6,390,191...6,390,690 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 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: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP
EXP		 ClinVar Annotator: match by term: Niemann-Pick disease, type B
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		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 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
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 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chr14:75,053,243...75,069,490
Ensembl chr14:75,053,237...75,069,483 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 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
EXP		 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 chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		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 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type D ClinVar
OMIM		 PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		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 IAGP ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sea-blue histiocytosis
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis		 CTD
OMIM
ClinVar		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      immune system disease 23205
        lymphatic system disease 3476
          histiocytosis 105
            non-Langerhans-cell histiocytosis 96
              Erdheim-Chester disease 0
              Niemann-Pick disease + 31
              Sinus Histiocytosis + 1
              adult xanthogranuloma 0
              hemophagocytic lymphohistiocytosis + 63
              juvenile xanthogranuloma 0
              multicentric reticulohistiocytosis 0
              reticulohistiocytic granuloma 0
              sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      Immune & Inflammatory Diseases 27359
        immune system disease 23205
          lymphatic system disease 3476
            histiocytosis 105
              non-Langerhans-cell histiocytosis 96
                Erdheim-Chester disease 0
                Niemann-Pick disease + 31
                Sinus Histiocytosis + 1
                adult xanthogranuloma 0
                hemophagocytic lymphohistiocytosis + 63
                juvenile xanthogranuloma 0
                multicentric reticulohistiocytosis 0
                reticulohistiocytic granuloma 0
                sea-blue histiocytosis 1
paths to the root