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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:hemophagocytic lymphohistiocytosis
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Accession:DOID:0050120 term browser browse the term
Definition:A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)
Synonyms:exact_synonym: HPLH;   HPS;   haemophagocytic syndrome;   hemophagocytic lymphohistiocytoses;   hemophagocytic syndrome;   hemophagocytic syndromes;   infection-associated hemophagocytic syndrome;   primary hemophagocytic hymphohistiocytosis;   primary hemophagocytic lymphohistiocytosis;   reactive hemophagocytic syndrome
 primary_id: MESH:D051359
 xref: GARD:6589;   ICD10CM:D76.1;   MIM:PS267700;   NCI:C34792;   ORDO:540


show annotations for term's descendants           Sort by:
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
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: 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: 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: Griscelli syndrome type 2
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    disease of anatomical entity 133718
      immune system disease 23236
        lymphatic system disease 3476
          histiocytosis 105
            non-Langerhans-cell histiocytosis 96
              hemophagocytic lymphohistiocytosis 63
                Familial Hemophagocytic Lymphohistiocytoses + 48
                Griscelli syndrome + 10
Path 2
Term Annotations click to browse term
  disease 146647
    disease of anatomical entity 133718
      Immune & Inflammatory Diseases 27399
        immune system disease 23236
          lymphatic system disease 3476
            histiocytosis 105
              non-Langerhans-cell histiocytosis 96
                hemophagocytic lymphohistiocytosis 63
                  Familial Hemophagocytic Lymphohistiocytoses + 48
                  Griscelli syndrome + 10
paths to the root