MCID: PRM304
MIFTS: 36

Primary Hemophagocytic Lymphohistiocytosis

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Primary Hemophagocytic Lymphohistiocytosis:

Name: Primary Hemophagocytic Lymphohistiocytosis 59
Genetic Hemophagocytic Lymphohistiocytosis 59

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

UMLS via Orphanet 73 C0272199
Orphanet 59 ORPHA158038

Summaries for Primary Hemophagocytic Lymphohistiocytosis

MalaCards based summary : Primary Hemophagocytic Lymphohistiocytosis, also known as genetic hemophagocytic lymphohistiocytosis, is related to griscelli syndrome, type 2 and griscelli syndrome. An important gene associated with Primary Hemophagocytic Lymphohistiocytosis is STXBP2 (Syntaxin Binding Protein 2), and among its related pathways/superpathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and bone, and related phenotypes are hematopoietic system and immune system

Related Diseases for Primary Hemophagocytic Lymphohistiocytosis

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5 Secondary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis

Diseases related to Primary Hemophagocytic Lymphohistiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 29.9 UNC13D RAB27A
2 griscelli syndrome 29.7 UNC13D RAB27A
3 macrophage activation syndrome 29.5 UNC13D RAB27A PRF1
4 hemophagocytic lymphohistiocytosis 28.4 UNC13D STXBP2 STX11 RAB27A PRF1
5 hemophagocytic lymphohistiocytosis, familial, 4 28.0 UNC13D STXBP2 STX11 RAB27A
6 hematopoietic stem cell transplantation 10.4
7 hemophagocytic lymphohistiocytosis, familial, 1 10.2
8 splenomegaly 10.2
9 autosomal recessive disease 10.1
10 juvenile rheumatoid arthritis 10.1
11 systemic onset juvenile idiopathic arthritis 10.1
12 cytomegalovirus infection 10.1
13 hemochromatosis, neonatal 10.0
14 hemochromatosis, type 1 10.0
15 hemophagocytic lymphohistiocytosis, familial, 2 10.0
16 langerhans cell histiocytosis 10.0
17 lymphoma, non-hodgkin, familial 10.0
18 hemophagocytic lymphohistiocytosis, familial, 3 10.0
19 lymphoproliferative syndrome 10.0
20 thrombocytopenia 10.0
21 histiocytosis 10.0
22 acute disseminated encephalomyelitis 10.0
23 microcephaly 10.0
24 homologous wasting disease 10.0
25 secondary hemophagocytic lymphohistiocytosis 10.0
26 autoimmune lymphoproliferative syndrome 9.9 UNC13D PRF1
27 good syndrome 9.6 UNC13D STX11
28 chediak-higashi syndrome 9.5 UNC13D RAB27A
29 lymphatic system disease 8.6 UNC13D STXBP2 STX11 RAB27A

Graphical network of the top 20 diseases related to Primary Hemophagocytic Lymphohistiocytosis:



Diseases related to Primary Hemophagocytic Lymphohistiocytosis

Symptoms & Phenotypes for Primary Hemophagocytic Lymphohistiocytosis

MGI Mouse Phenotypes related to Primary Hemophagocytic Lymphohistiocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 PRF1 RAB27A STX11 STXBP2 UNC13D
2 immune system MP:0005387 9.02 PRF1 RAB27A STX11 STXBP2 UNC13D

Drugs & Therapeutics for Primary Hemophagocytic Lymphohistiocytosis

Drugs for Primary Hemophagocytic Lymphohistiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Anti-Infective Agents Phase 3
5 interferons Phase 3
6 Antiviral Agents Phase 3
7 Interferon-gamma Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Single Arm, Multicenter Study to Broaden Access to Emapalumab, an Anti-Interferon Gamma (Anti-IFNγ) Monoclonal Antibody, and to Assess Its Efficacy, Safety, Impact on Quality of Life, and Long-term Outcome in Pediatric Patients With Primary Hemophagocytic Lymphohistiocytosis Recruiting NCT03312751 Phase 3 Emapalumab

Search NIH Clinical Center for Primary Hemophagocytic Lymphohistiocytosis

Genetic Tests for Primary Hemophagocytic Lymphohistiocytosis

Anatomical Context for Primary Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Primary Hemophagocytic Lymphohistiocytosis:

41
Testes, Liver, Bone, Bone Marrow, Nk Cells

Publications for Primary Hemophagocytic Lymphohistiocytosis

Articles related to Primary Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study. 38
31388699 2019
2
Late relapse of primary hemophagocytic lymphohistiocytosis after hematopoietic stem cell transplantation: a consequence of low-level chimerism from a carrier donor? 38
31264179 2019
3
Role of IFNγ in immune-mediated graft failure occurring after allogeneic hematopoietic stem cell transplantation. 38
30792213 2019
4
Senescence-accelerated mice (SAMP1/TA-1) treated repeatedly with lipopolysaccharide develop a condition that resembles hemophagocytic lymphohistiocytosis. 38
30819910 2019
5
Soluble ST2 and CD163 as Potential Biomarkers to Differentiate Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. 38
30671214 2019
6
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis. 38
30104219 2018
7
Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease. 38
30070073 2018
8
High Rates of Community and Hospital Acquired Infections in Patients with Cellular Immunodeficiencies. 38
30267241 2018
9
Macrophage activation syndrome in adult systemic lupus erythematosus: report of seven adult cases from a single Italian rheumatology center. 38
29976044 2018
10
Langerhans cell histiocytosis and primary hemophagocytic lymphohistiocytosis with persistent clonal T-large granular lymphocyte proliferation. 38
29582110 2018
11
Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. 38
28807602 2018
12
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. 38
29357941 2018
13
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis. 38
28816794 2017
14
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites. 38
28403691 2017
15
Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. 38
28807357 2017
16
Primary Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome: The Importance of Timely Clinical Differentiation. 38
28838727 2017
17
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. 38
28270454 2017
18
Successful haploidentical stem cell transplantation for three adults with primary hemophagocytic lymphohistiocytosis. 38
27775696 2017
19
Therapeutic plasma exchange in primary hemophagocytic lymphohistiocytosis: Reports of two cases and a review of the literature. 38
27743708 2016
20
[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis]. 38
27535855 2016
21
Symptomatic Primary Selective IgM Immunodeficiency - B Lymphoid Cell Defect in Adult Man with Secondary HLH Syndrome. 38
27759358 2016
22
Mouse Cytomegalovirus Infection in BALB/c Mice Resembles Virus-Associated Secondary Hemophagocytic Lymphohistiocytosis and Shows a Pathogenesis Distinct from Primary Hemophagocytic Lymphohistiocytosis. 38
26903481 2016
23
A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis. 38
26880764 2016
24
[Macrovesicular hepatic steatosis revealing pregnancy hemophagocytic lymphohistiocytosis]. 38
25304169 2015
25
Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis. 38
25901543 2015
26
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 38
25382070 2015
27
Hemophagocytic lymphohistiocytosis: a case series of a Brazilian institution. 38
25453655 2014
28
Risk for complications in patients with hemophagocytic lymphohistiocytosis who undergo hematopoietic stem cell transplantation: myeloablative versus reduced-intensity conditioning regimens. 38
24871821 2014
29
Fludarabine-based reduced-intensity conditioning regimen for hematopoietic stem cell transplantation in primary hemophagocytic lymphohistiocytosis. 38
24330187 2014
30
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood. 38
25233452 2014
31
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. 38
24795715 2014
32
Defective UNC13D gene-associated familial hemophagocytic lymphohistiocytosis triggered by visceral leishmaniasis: a diagnostic challenge. 38
23774160 2014
33
Feasibility of reduced-intensity conditioning followed by unrelated cord blood transplantation for primary hemophagocytic lymphohistiocytosis: a nationwide retrospective analysis in Japan. 38
23843148 2013
34
Increased complications and morbidity in children with hemophagocytic lymphohistiocytosis undergoing hematopoietic stem cell transplantation. 38
23331022 2013
35
Demonstration of type II latency in T lymphocytes of Epstein-Barr Virus-associated hemophagocytic lymphohistiocytosis. 38
22961815 2013
36
Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice. 38
24379813 2013
37
Primary hemophagocytic lymphohistiocytosis in Iran: report from a single referral center. 38
22475297 2012
38
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. 38
22422896 2012
39
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis]. 38
21600143 2011
40
Clinical and laboratory data of primary hemophagocytic lymphohistiocytosis: A retrospective review of the Turkish Histiocyte Study Group. 38
27263739 2010
41
Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children. 38
19131769 2008
42
Central nervous system involvement in Turkish children with primary hemophagocytic lymphohistiocytosis. 38
18984839 2008
43
Myelofibrosis in a patient with familial hemophagocytic lymphohistiocytosis. 38
18253962 2008
44
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 38
16278825 2006
45
Macrophage activation syndrome: characteristic findings on liver biopsy illustrating the key role of activated, IFN-gamma-producing lymphocytes and IL-6- and TNF-alpha-producing macrophages. 38
15466922 2005
46
Primary hemophagocytic lymphohistiocytosis in Turkish children. 38
12775534 2003
47
Successful engraftment and stable full donor chimerism after myeloablation with thiotepa, fludarabine, and melphalan and CD34-selected peripheral allogeneic stem cell transplantation in hemophagocytic lymphohistiocytosis. 38
12555220 2003
48
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. 38
12239144 2002
49
Adverse outcomes in primary hemophagocytic lymphohistiocytosis. 38
12368693 2002
50
[Therapeutic effect of cyclosporin A combined with methylprednisolone pulse therapy on hemophagocytic syndrome with the central nervous system involvement]. 38
11808211 2002

Variations for Primary Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Primary Hemophagocytic Lymphohistiocytosis:

6 (show top 50) (show all 213)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STXBP2 NM_006949.4(STXBP2): c.1247-1G> C single nucleotide variant Pathogenic rs140148806 19:7710082-7710082 19:7645196-7645196
2 PRF1 NM_001083116.3(PRF1): c.272C> T (p.Ala91Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35947132 10:72360387-72360387 10:70600631-70600631
3 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117221419 17:73832723-73832723 17:75836642-75836642
4 STX11 NM_003764.4(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 6:144508310-144508310 6:144187173-144187173
5 UNC13D NM_199242.2(UNC13D): c.2341G> A (p.Val781Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149871493 17:73830182-73830182 17:75834101-75834101
6 UNC13D NM_199242.2(UNC13D): c.444G> A (p.Gly148=) single nucleotide variant Conflicting interpretations of pathogenicity rs373551579 17:73838639-73838639 17:75842558-75842558
7 PRF1 NM_001083116.3(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 10:72358847-72358847 10:70599091-70599091
8 PRF1 NM_001083116.3(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 10:72360197-72360197 10:70600441-70600441
9 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 17:73826167-73826167 17:75830086-75830086
10 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112341334 17:73830391-73830391 17:75834310-75834310
11 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 17:73830738-73830738 17:75834657-75834657
12 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Conflicting interpretations of pathogenicity rs372034111 17:73824941-73824941 17:75828860-75828860
13 UNC13D NM_199242.2(UNC13D): c.951+13T> G single nucleotide variant Conflicting interpretations of pathogenicity rs140758914 17:73836086-73836086 17:75840005-75840005
14 UNC13D NM_199242.2(UNC13D): c.99G> A (p.Pro33=) single nucleotide variant Conflicting interpretations of pathogenicity rs147886860 17:73840320-73840320 17:75844239-75844239
15 UNC13D NM_199242.2(UNC13D): c.24G> A (p.Pro8=) single nucleotide variant Conflicting interpretations of pathogenicity rs143320460 17:73840395-73840395 17:75844314-75844314
16 STXBP2 NM_006949.4(STXBP2): c.849G> A (p.Glu283=) single nucleotide variant Conflicting interpretations of pathogenicity rs34450592 19:7707369-7707369 19:7642483-7642483
17 STX11 NM_003764.4(STX11): c.*1221dup duplication Conflicting interpretations of pathogenicity rs397725572 6:144509849-144509849 6:144188712-144188712
18 STXBP2 NM_006949.4(STXBP2): c.1455C> T (p.Asp485=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425381 19:7712050-7712050 19:7647164-7647164
19 UNC13D NM_199242.2(UNC13D): c.904C> T (p.Leu302Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs55661958 17:73836146-73836146 17:75840065-75840065
20 UNC13D NM_199242.2(UNC13D): c.3033C> T (p.Ala1011=) single nucleotide variant Conflicting interpretations of pathogenicity rs144730861 17:73824986-73824986 17:75828905-75828905
21 STXBP2 NM_006949.4(STXBP2): c.1586G> C (p.Arg529Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs35490401 19:7712287-7712287 19:7647401-7647401
22 UNC13D NM_199242.2(UNC13D): c.-278C> T single nucleotide variant Uncertain significance rs886053428 17:73840696-73840696 17:75844615-75844615
23 UNC13D NM_199242.2(UNC13D): c.-332G> A single nucleotide variant Uncertain significance rs560759175 17:73840750-73840750 17:75844669-75844669
24 UNC13D NM_199242.2(UNC13D): c.2368-5C> T single nucleotide variant Uncertain significance rs180768962 17:73829131-73829131 17:75833050-75833050
25 UNC13D NM_199242.2(UNC13D): c.2044C> T (p.Arg682Cys) single nucleotide variant Uncertain significance rs755931780 17:73830746-73830746 17:75834665-75834665
26 UNC13D NM_199242.2(UNC13D): c.1772C> T (p.Pro591Leu) single nucleotide variant Uncertain significance rs144852879 17:73831566-73831566 17:75835485-75835485
27 UNC13D NM_199242.2(UNC13D): c.1389+12G> A single nucleotide variant Uncertain significance rs199536082 17:73832408-73832408 17:75836327-75836327
28 UNC13D NM_199242.2(UNC13D): c.273G> A (p.Val91=) single nucleotide variant Uncertain significance rs149494974 17:73839143-73839143 17:75843062-75843062
29 UNC13D NM_199242.2(UNC13D): c.-229C> G single nucleotide variant Uncertain significance rs569893312 17:73840647-73840647 17:75844566-75844566
30 UNC13D NM_199242.2(UNC13D): c.-260C> T single nucleotide variant Uncertain significance rs113482537 17:73840678-73840678 17:75844597-75844597
31 STXBP2 NM_006949.4(STXBP2): c.14G> A (p.Gly5Glu) single nucleotide variant Uncertain significance rs886054700 19:7702049-7702049 19:7637163-7637163
32 STXBP2 NM_006949.4(STXBP2): c.145G> C (p.Asp49His) single nucleotide variant Uncertain significance rs886054701 19:7703962-7703962 19:7639076-7639076
33 STXBP2 NM_006949.4(STXBP2): c.270C> T (p.Asp90=) single nucleotide variant Uncertain significance rs886054702 19:7705640-7705640 19:7640754-7640754
34 STXBP2 NM_006949.4(STXBP2): c.333C> T (p.Pro111=) single nucleotide variant Uncertain significance rs144233139 19:7705793-7705793 19:7640907-7640907
35 STX11 NM_003764.4(STX11): c.*4195G> A single nucleotide variant Uncertain significance rs540467361 6:144512823-144512823 6:144191686-144191686
36 STX11 NM_003764.4(STX11): c.*4070C> A single nucleotide variant Uncertain significance rs148176592 6:144512698-144512698 6:144191561-144191561
37 STX11 NM_003764.4(STX11): c.*3670C> G single nucleotide variant Uncertain significance rs79283142 6:144512298-144512298 6:144191161-144191161
38 STX11 NM_003764.4(STX11): c.*700C> T single nucleotide variant Uncertain significance rs886061143 6:144509328-144509328 6:144188191-144188191
39 STX11 NM_003764.4(STX11): c.*179A> G single nucleotide variant Uncertain significance rs551983948 6:144508807-144508807 6:144187670-144187670
40 STX11 NM_003764.4(STX11): c.214T> C (p.Phe72Leu) single nucleotide variant Uncertain significance rs764192301 6:144507978-144507978 6:144186841-144186841
41 STX11 NM_003764.4(STX11): c.26T> G (p.Leu9Arg) single nucleotide variant Uncertain significance rs34470310 6:144507790-144507790 6:144186653-144186653
42 STX11 NM_003764.4(STX11): c.-71C> T single nucleotide variant Uncertain significance rs886061140 6:144471775-144471775 6:144150638-144150638
43 UNC13D NM_199242.2(UNC13D): c.156G> T (p.Arg52=) single nucleotide variant Uncertain significance rs111728477 17:73839345-73839345 17:75843264-75843264
44 UNC13D NM_199242.2(UNC13D): c.43T> G (p.Leu15Val) single nucleotide variant Uncertain significance rs886053424 17:73840376-73840376 17:75844295-75844295
45 UNC13D NM_199242.2(UNC13D): c.-176G> A single nucleotide variant Uncertain significance rs886053427 17:73840594-73840594 17:75844513-75844513
46 UNC13D NM_199242.2(UNC13D): c.-363C> T single nucleotide variant Uncertain significance rs886053429 17:73840781-73840781 17:75844700-75844700
47 STXBP2 NM_006949.4(STXBP2): c.914A> G (p.Glu305Gly) single nucleotide variant Uncertain significance rs370890802 19:7707663-7707663 19:7642777-7642777
48 STXBP2 NM_006949.4(STXBP2): c.1027-10C> T single nucleotide variant Uncertain significance rs201961771 19:7708041-7708041 19:7643155-7643155
49 PRF1 NM_001083116.3(PRF1): c.*521C> A single nucleotide variant Uncertain significance rs193221010 10:72357288-72357288 10:70597532-70597532
50 PRF1 NM_001083116.3(PRF1): c.*664A> G single nucleotide variant Uncertain significance rs886047106 10:72357145-72357145 10:70597389-70597389

Expression for Primary Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Primary Hemophagocytic Lymphohistiocytosis.

Pathways for Primary Hemophagocytic Lymphohistiocytosis

Pathways related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.16 UNC13D RAB27A
2 9.7 UNC13D RAB27A

GO Terms for Primary Hemophagocytic Lymphohistiocytosis

Cellular components related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.43 UNC13D RAB27A PRF1
2 late endosome GO:0005770 9.32 UNC13D RAB27A
3 exocytic vesicle GO:0070382 9.16 UNC13D RAB27A
4 Weibel-Palade body GO:0033093 8.96 UNC13D RAB27A
5 cytolytic granule GO:0044194 8.62 STXBP2 PRF1

Biological processes related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.58 UNC13D STXBP2 RAB27A
2 vesicle-mediated transport GO:0016192 9.54 STXBP2 STX11 RAB27A
3 defense response to virus GO:0051607 9.43 UNC13D PRF1
4 positive regulation of exocytosis GO:0045921 9.32 UNC13D RAB27A
5 regulation of mast cell degranulation GO:0043304 9.26 UNC13D STXBP2
6 natural killer cell degranulation GO:0043320 9.16 UNC13D RAB27A
7 positive regulation of regulated secretory pathway GO:1903307 8.96 UNC13D RAB27A
8 exocytosis GO:0006887 8.92 UNC13D STXBP2 STX11 RAB27A

Sources for Primary Hemophagocytic Lymphohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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