MCID: GRS014
MIFTS: 49

Griscelli Syndrome, Type 2

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Griscelli Syndrome, Type 2

MalaCards integrated aliases for Griscelli Syndrome, Type 2:

Name: Griscelli Syndrome, Type 2 57 13 55 40 73
Griscelli Syndrome Type 2 12 53 29 6 44 15
Gs2 57 12 53 75
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 12 53 59
Griscelli Syndrome with Hemophagocytic Syndrome 57 12 53
Partial Albinism and Immunodeficiency Syndrome 57 12 53
Griscelli-Pruniéras Syndrome Type 2 12 53 59
Paid Syndrome 57 12 53
Griscelli Disease Type 2 59
Griscelli Syndrome 2 75

Characteristics:

Orphanet epidemiological data:

59
griscelli disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in childhood
multiorgan failure may result from hs
see also griscelli syndrome type 1 for a similar disorder without immunological abnormalities and griscelli syndrome type 3 for a similar disorder without neurologic or immunologic abnormalities


HPO:

32
griscelli syndrome, type 2:
Onset and clinical course infantile onset
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Griscelli Syndrome, Type 2

NIH Rare Diseases : 53 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.

MalaCards based summary : Griscelli Syndrome, Type 2, also known as griscelli syndrome type 2, is related to griscelli syndrome, type 1 and macrophage activation syndrome, and has symptoms including muscle spasticity, seizures and cerebellar signs. An important gene associated with Griscelli Syndrome, Type 2 is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Interleukin-10 signaling and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are jaundice and petechiae

Disease Ontology : 12 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.

UniProtKB/Swiss-Prot : 75 Griscelli syndrome 2: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.

Description from OMIM: 607624

Related Diseases for Griscelli Syndrome, Type 2

Diseases in the Griscelli Syndrome family:

Griscelli Syndrome, Type 1 Griscelli Syndrome, Type 2
Griscelli Syndrome, Type 3

Diseases related to Griscelli Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 32.2 MYO5A RAB27A
2 macrophage activation syndrome 30.3 RAB27A UNC13D
3 griscelli syndrome 27.6 CCL5 IL10 LYST MLPH MYO5A RAB27A
4 hemophagocytic lymphohistiocytosis 27.2 IL10 LYST RAB27A UNC13B UNC13D
5 hemophagocytic lymphohistiocytosis, familial, 4 10.4 RAB27A UNC13D
6 vulvovaginitis 10.3 CCL5 IL10
7 orofacial granulomatosis 10.3 CCL5 IL10
8 radiculopathy 10.3 CCL5 IL10
9 mycetoma 10.3 CCL5 IL10
10 genital herpes 10.3 CCL5 IL10
11 spotted fever 10.3 CCL5 IL10
12 cytomegalovirus infection 10.3 CCL5 IL10
13 polyradiculoneuropathy 10.3 CCL5 IL10
14 viral encephalitis 10.3 CCL5 IL10
15 idiopathic neutropenia 10.2 CCL5 IL10
16 lymphatic system disease 10.2 RAB27A UNC13D
17 human immunodeficiency virus infectious disease 10.2 CCL5 IL10
18 tropical spastic paraparesis 10.2 CCL5 IL10
19 piebald trait 10.2 MLPH MYO5A RAB27A
20 extrinsic allergic alveolitis 10.2 CCL5 IL10
21 filariasis 10.1 CCL5 IL10
22 bronchial disease 10.1 CCL5 IL10
23 autoinflammation, lipodystrophy, and dermatosis syndrome 10.0 CCL5 IL10
24 hematopoietic stem cell transplantation 10.0
25 helicobacter pylori infection 10.0 CCL5 IL10
26 respiratory system disease 9.9 CCL5 IL10
27 myositis 9.9
28 lymphomatoid granulomatosis 9.9
29 bronchiolitis 9.8 CCL5 IL10
30 relapsing-remitting multiple sclerosis 9.6 CCL5 IL10
31 griscelli syndrome, type 3 9.5 MLPH MYO5A RAB27A SYTL2
32 chediak-higashi syndrome 9.4 LYST RAB27A UNC13D

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 2:



Diseases related to Griscelli Syndrome, Type 2

Symptoms & Phenotypes for Griscelli Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
cerebellar signs
variable neurologic deterioration (likely result of hemophagocytic syndrome)

Skin Nails Hair Skin:
skin hypopigmentation
accumulation of melanosomes in melanocytes

Skin Nails Hair Hair:
silver-gray hair
melanin pigment aggregation in hair shafts

Immunology:
hemophagocytic syndrome (hs) characterized by acute onset of uncontrolled t-lymphocyte and macrophage activation
lymphohistiocytic infiltration and hemophagocytosis in multiple organs
t-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis
deficiency of delayed skin hypersensitivity
humoral deficiency (likely result of t-cell abnormalities)
more

Clinical features from OMIM:

607624

Human phenotypes related to Griscelli Syndrome, Type 2:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
2 petechiae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000967
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 neutropenia 59 32 frequent (33%) Frequent (79-30%) HP:0001875
7 pancytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001876
8 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
9 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
10 pulmonary infiltrates 59 32 occasional (7.5%) Occasional (29-5%) HP:0002113
11 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
12 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
13 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
14 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
15 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
16 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
17 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
18 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
19 hemophagocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012156
20 accumulation of melanosomes in melanocytes 32 HP:0001008
21 hypopigmentation of the skin 32 HP:0001010
22 spasticity 32 HP:0001257
23 abnormality of the cerebellum 32 HP:0001317
24 silver-gray hair 32 HP:0002218
25 melanin pigment aggregation in hair shafts 32 HP:0002220
26 progressive neurologic deterioration 32 occasional (7.5%) HP:0002344
27 recurrent bacterial infections 32 HP:0002718
28 reduced delayed hypersensitivity 32 HP:0002972

UMLS symptoms related to Griscelli Syndrome, Type 2:


muscle spasticity, seizures, cerebellar signs

GenomeRNAi Phenotypes related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.75 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 CCL5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.75 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.75 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.75 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.75 CCL5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.75 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.75 IL10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.75 SYTL2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.75 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 IL10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.75 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.75 SYTL2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.75 SYTL2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 SYTL2 CCL5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.75 IL10 SYTL2 CCL5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 SYTL2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.75 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.75 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 IL10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.75 CCL5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 IL10

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 CCL5 IL10 LYST MYO5A RAB27A UNC13D
2 immune system MP:0005387 9.8 CCL5 IL10 LYST MLPH MYO5A RAB27A
3 integument MP:0010771 9.55 IL10 LYST MLPH MYO5A RAB27A
4 pigmentation MP:0001186 9.26 LYST MLPH MYO5A RAB27A
5 vision/eye MP:0005391 9.1 IL10 LYST MLPH MYO5A RAB27A UNC13B

Drugs & Therapeutics for Griscelli Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Griscelli Syndrome, Type 2

Cochrane evidence based reviews: griscelli syndrome type 2

Genetic Tests for Griscelli Syndrome, Type 2

Genetic tests related to Griscelli Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Griscelli Syndrome Type 2 29 RAB27A

Anatomical Context for Griscelli Syndrome, Type 2

MalaCards organs/tissues related to Griscelli Syndrome, Type 2:

41
Skin, Bone Marrow, Bone, T Cells, Eye, Cerebellum

Publications for Griscelli Syndrome, Type 2

Articles related to Griscelli Syndrome, Type 2:

(show all 23)
# Title Authors Year
1
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. ( 29875956 )
2018
2
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )
2017
3
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )
2017
4
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
5
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
6
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
7
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
8
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
9
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
10
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
11
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
12
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
13
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
14
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
15
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
16
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
17
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
18
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
19
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
2008
20
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. ( 19030707 )
2008
21
Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )
2008
22
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. ( 18350256 )
2008
23
Griscelli syndrome type 2; a pediatric case with immunodeficiency. ( 17893437 )
2007

Variations for Griscelli Syndrome, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 RAB27A p.Trp73Gly VAR_010654 rs28938176
2 RAB27A p.Leu130Pro VAR_011334 rs104894498
3 RAB27A p.Ala152Pro VAR_011335 rs104894499

ClinVar genetic disease variations for Griscelli Syndrome, Type 2:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB27A NM_183235.2(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 GRCh37 Chromosome 15, 55522621: 55522621
2 RAB27A NM_183235.2(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 GRCh38 Chromosome 15, 55230423: 55230423
3 RAB27A RAB27A, INV3DS, A-G, +3 single nucleotide variant Pathogenic
4 RAB27A RAB27A, 550C-T single nucleotide variant Pathogenic
5 RAB27A RAB27A, 67.5-KB DEL deletion Pathogenic
6 RAB27A NM_183235.2(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 GRCh37 Chromosome 15, 55516165: 55516165
7 RAB27A NM_183235.2(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 GRCh38 Chromosome 15, 55223967: 55223967
8 RAB27A NM_183235.2(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 GRCh37 Chromosome 15, 55516100: 55516100
9 RAB27A NM_183235.2(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 GRCh38 Chromosome 15, 55223902: 55223902
10 RAB27A RAB27A, 2-BP DEL, 51CT deletion Pathogenic
11 RAB27A RAB27A, IVS5, G-C, +1 single nucleotide variant Pathogenic
12 RAB27A NM_183235.2(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 GRCh37 Chromosome 15, 55516202: 55516202
13 RAB27A NM_183235.2(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 GRCh38 Chromosome 15, 55224004: 55224004
14 RAB27A NM_004580.4(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 GRCh38 Chromosome 15, 55230473: 55230473
15 RAB27A NM_004580.4(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 GRCh37 Chromosome 15, 55522671: 55522671
16 RAB27A NM_004580.4(RAB27A): c.514_518delCAAGC (p.Gln172Asnfs) deletion Likely pathogenic rs767481076 GRCh37 Chromosome 15, 55497853: 55497857
17 RAB27A NM_004580.4(RAB27A): c.514_518delCAAGC (p.Gln172Asnfs) deletion Likely pathogenic rs767481076 GRCh38 Chromosome 15, 55205655: 55205659
18 RAB27A NM_004580.4(RAB27A): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs200956636 GRCh37 Chromosome 15, 55497821: 55497821
19 RAB27A NM_004580.4(RAB27A): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs200956636 GRCh38 Chromosome 15, 55205623: 55205623
20 RAB27A NM_004580.4(RAB27A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs141281020 GRCh37 Chromosome 15, 55527131: 55527131
21 RAB27A NM_004580.4(RAB27A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs141281020 GRCh38 Chromosome 15, 55234933: 55234933
22 RAB27A NM_004580.4(RAB27A): c.18_19delTG (p.Tyr6Terfs) deletion Pathogenic GRCh37 Chromosome 15, 55527114: 55527115
23 RAB27A NM_004580.4(RAB27A): c.18_19delTG (p.Tyr6Terfs) deletion Pathogenic GRCh38 Chromosome 15, 55234916: 55234917
24 RAB27A NC_000015.10: g.(?_55228589)_(55234954_?)del deletion Pathogenic GRCh38 Chromosome 15, 55228589: 55234954
25 RAB27A NM_004580.4(RAB27A): c.594G> A (p.Val198=) single nucleotide variant Benign rs141222527 GRCh38 Chromosome 15, 55205579: 55205579
26 RAB27A NM_004580.4(RAB27A): c.594G> A (p.Val198=) single nucleotide variant Benign rs141222527 GRCh37 Chromosome 15, 55497777: 55497777
27 RAB27A NM_004580.4(RAB27A): c.468-3C> T single nucleotide variant Benign rs113895512 GRCh37 Chromosome 15, 55497906: 55497906
28 RAB27A NM_004580.4(RAB27A): c.468-3C> T single nucleotide variant Benign rs113895512 GRCh38 Chromosome 15, 55205708: 55205708
29 RAB27A NM_004580.4(RAB27A): c.195C> G (p.Gly65=) single nucleotide variant Likely benign rs897453247 GRCh37 Chromosome 15, 55522643: 55522643
30 RAB27A NM_004580.4(RAB27A): c.195C> G (p.Gly65=) single nucleotide variant Likely benign rs897453247 GRCh38 Chromosome 15, 55230445: 55230445
31 RAB27A NM_004580.4(RAB27A): c.365A> T (p.Tyr122Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 55223991: 55223991
32 RAB27A NM_004580.4(RAB27A): c.365A> T (p.Tyr122Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 55516189: 55516189
33 RAB27A NM_004580.4(RAB27A): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs145253993 GRCh37 Chromosome 15, 55527116: 55527116
34 RAB27A NM_004580.4(RAB27A): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs145253993 GRCh38 Chromosome 15, 55234918: 55234918
35 RAB27A NM_004580.4(RAB27A): c.418C> G (p.Gln140Glu) single nucleotide variant Uncertain significance rs150463407 GRCh38 Chromosome 15, 55223938: 55223938
36 RAB27A NM_004580.4(RAB27A): c.418C> G (p.Gln140Glu) single nucleotide variant Uncertain significance rs150463407 GRCh37 Chromosome 15, 55516136: 55516136

Expression for Griscelli Syndrome, Type 2

Search GEO for disease gene expression data for Griscelli Syndrome, Type 2.

Pathways for Griscelli Syndrome, Type 2

Pathways related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 CCL5 IL10
2 10.13 MLPH RAB27A SYTL2 UNC13D
3 10.03 RAB27A UNC13D

GO Terms for Griscelli Syndrome, Type 2

Cellular components related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.54 MYO5A RAB27A UNC13D
2 late endosome GO:0005770 9.43 MYO5A RAB27A UNC13D
3 melanosome GO:0042470 9.33 MYO5A RAB27A SYTL2
4 photoreceptor outer segment GO:0001750 9.32 MYO5A RAB27A
5 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D
6 exocytic vesicle GO:0070382 8.8 RAB27A SYTL2 UNC13D

Biological processes related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.71 MLPH RAB27A SYTL2
2 vesicle-mediated transport GO:0016192 9.69 MYO5A RAB27A SYTL2
3 synaptic vesicle exocytosis GO:0016079 9.52 SYTL2 UNC13B
4 positive regulation of exocytosis GO:0045921 9.49 RAB27A UNC13D
5 defense response to protozoan GO:0042832 9.48 IL10 LYST
6 melanocyte differentiation GO:0030318 9.46 MYO5A RAB27A
7 leukocyte chemotaxis GO:0030595 9.43 IL10 LYST
8 vesicle transport along actin filament GO:0030050 9.4 MLPH MYO5A
9 natural killer cell degranulation GO:0043320 9.37 RAB27A UNC13D
10 pigmentation GO:0043473 9.33 LYST MYO5A RAB27A
11 melanosome localization GO:0032400 9.32 MYO5A RAB27A
12 positive regulation of regulated secretory pathway GO:1903307 9.26 RAB27A UNC13D
13 melanosome transport GO:0032402 9.13 MLPH MYO5A RAB27A
14 exocytosis GO:0006887 9.1 CCL5 MYO5A RAB27A SYTL2 UNC13B UNC13D

Molecular functions related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.02 MLPH MYO5A SYTL2 UNC13B UNC13D

Sources for Griscelli Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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