Disease table of GRISCELLI SYNDROME OMIM ID: PS214450

Gene-disease associations table

GeneAssociated with GRISCELLI SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RAB27AClinVar, OMIM, HUMSAVARHGNC link15q21.31PS214450
MYO5AClinVar, OMIMHGNC link15q21.21PS214450
MLPHClinVar, OMIM, HUMSAVARHGNC link2q37.31PS214450

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
15q212MYO5A, RAB27A
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
15q22MYO5A, RAB27A
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
15q2MYO5A, RAB27A
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
152MYO5A, RAB27A
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
RAB27AMYO5AYes1MLPH
RAB27AMLPHYes1MYO5A
MYO5AMLPHYes1RAB27A

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
MLPHMYO5Ayes, they interactThey are in interaction. [UniProt]
MLPHRAB27Ayes, complexRAB27A binds MLPH. [UniProt]
MYO5ARAB27ANo
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Insulin processingR-HSA-2648768.282RAB27A, MYO5A
Peptide hormone metabolismR-HSA-29807366.612RAB27A, MYO5A
Metabolism of proteinsR-HSA-3924993.412RAB27A, MYO5A

NET-GE enrichment

Term New enriched termICP valueGenes
Insulin processing (R-HSA-264876) -8.280.0RAB27A, MYO5A
Peptide hormone metabolism (R-HSA-2980736) -6.610.015RAB27A, MYO5A
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183RAB27A, MLPH, MYO5A
protein binding (GO:0005515) 0.463RAB27A, MLPH, MYO5A
purine ribonucleoside triphosphate binding (GO:0035639) 2.222RAB27A, MYO5A
enzyme binding (GO:0019899) 2.272MLPH, MYO5A
small GTPase binding (GO:0031267) 4.132MLPH, MYO5A
GTPase binding (GO:0051020) 4.052MLPH, MYO5A
nucleotide binding (GO:0000166) 1.962RAB27A, MYO5A
heterocyclic compound binding (GO:1901363) 1.062RAB27A, MYO5A
nucleoside phosphate binding (GO:1901265) 1.962RAB27A, MYO5A
nucleoside binding (GO:0001882) 2.212RAB27A, MYO5A
cation binding (GO:0043169) 1.42MLPH, MYO5A
ion binding (GO:0043167) 1.362MLPH, MYO5A
purine nucleoside binding (GO:0001883) 2.222RAB27A, MYO5A
ribonucleoside binding (GO:0032549) 2.222RAB27A, MYO5A
purine nucleotide binding (GO:0017076) 2.192RAB27A, MYO5A
metal ion binding (GO:0046872) 1.412MLPH, MYO5A
hydrolase activity (GO:0016787) 1.92RAB27A, MYO5A
Rab GTPase binding (GO:0017137) 4.962MLPH, MYO5A
nucleoside-triphosphatase activity (GO:0017111) 3.092RAB27A, MYO5A
Ras GTPase binding (GO:0017016) 4.22MLPH, MYO5A
small molecule binding (GO:0036094) 1.892RAB27A, MYO5A
catalytic activity (GO:0003824) 1.052RAB27A, MYO5A
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032RAB27A, MYO5A
cytoskeletal protein binding (GO:0008092) 3.022RAB27A, MYO5A
carbohydrate derivative binding (GO:0097367) 2.032RAB27A, MYO5A
organic cyclic compound binding (GO:0097159) 1.052RAB27A, MYO5A
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032RAB27A, MYO5A
pyrophosphatase activity (GO:0016462) 3.042RAB27A, MYO5A
purine ribonucleotide binding (GO:0032555) 2.22RAB27A, MYO5A
purine ribonucleoside binding (GO:0032550) 2.222RAB27A, MYO5A
ribonucleotide binding (GO:0032553) 2.192RAB27A, MYO5A

NET-GE enrichment

Term New enriched termICP valueGenes
cytoskeletal protein binding (GO:0008092) -3.020.005RAB27A, MLPH, MYO5A
Rab GTPase binding (GO:0017137) -4.960.0RAB27A, MLPH, MYO5A
myosin binding (GO:0017022) NEW5.660.006RAB27A, MLPH
Ras GTPase binding (GO:0017016) -4.20.019RAB27A, MLPH, MYO5A
actin binding (GO:0003779) NEW3.740.015RAB27A, MLPH, MYO5A
small GTPase binding (GO:0031267) -4.130.002RAB27A, MLPH, MYO5A
GTPase binding (GO:0051020) -4.050.024RAB27A, MLPH, MYO5A
GDP binding (GO:0019003) NEW5.810.008RAB27A, MYO5A
myosin V binding (GO:0031489) NEW6.910.0RAB27A, MLPH
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.363RAB27A, MLPH, MYO5A
intracellular transport (GO:0046907) 2.673RAB27A, MLPH, MYO5A
establishment of localization (GO:0051234) 1.483RAB27A, MLPH, MYO5A
transport (GO:0006810) 1.513RAB27A, MLPH, MYO5A
establishment of protein localization (GO:0045184) 2.533RAB27A, MLPH, MYO5A
organic substance transport (GO:0071702) 2.153RAB27A, MLPH, MYO5A
protein transport (GO:0015031) 2.623RAB27A, MLPH, MYO5A
macromolecule localization (GO:0033036) 2.343RAB27A, MLPH, MYO5A
localization (GO:0051179) 1.43RAB27A, MLPH, MYO5A
establishment of localization in cell (GO:0051649) 2.473RAB27A, MLPH, MYO5A
cellular localization (GO:0051641) 2.323RAB27A, MLPH, MYO5A
regulation of transport (GO:0051049) 2.242RAB27A, MYO5A
cell differentiation (GO:0030154) 2.142RAB27A, MYO5A
regulation of cellular component organization (GO:0051128) 2.012RAB27A, MYO5A
secretion by cell (GO:0032940) 3.592RAB27A, MYO5A
establishment of organelle localization (GO:0051656) 4.152RAB27A, MYO5A
regulation of biological process (GO:0050789) 0.452RAB27A, MYO5A
cellular component organization or biogenesis (GO:0071840) 1.222RAB27A, MYO5A
cellular developmental process (GO:0048869) 1.822RAB27A, MYO5A
intracellular protein transport (GO:0006886) 3.22RAB27A, MLPH
exocytosis (GO:0006887) 4.112RAB27A, MYO5A
cellular component organization (GO:0016043) 1.242RAB27A, MYO5A
establishment of vesicle localization (GO:0051650) 4.912RAB27A, MYO5A
pigment granule localization (GO:0051875) 6.552RAB27A, MYO5A
biological regulation (GO:0065007) 0.392RAB27A, MYO5A
single-organism process (GO:0044699) 0.482RAB27A, MYO5A
melanosome transport (GO:0032402) 6.682RAB27A, MYO5A
establishment of melanosome localization (GO:0032401) 6.642RAB27A, MYO5A
regulation of biological quality (GO:0065008) 1.682RAB27A, MYO5A
multicellular organismal process (GO:0032501) 1.452RAB27A, MYO5A
melanocyte differentiation (GO:0030318) 6.732RAB27A, MYO5A
pigment cell differentiation (GO:0050931) 6.642RAB27A, MYO5A
cellular process (GO:0009987) 0.262RAB27A, MYO5A
regulation of cellular process (GO:0050794) 0.52RAB27A, MYO5A
single-organism transport (GO:0044765) 2.182RAB27A, MYO5A
single-organism cellular process (GO:0044763) 0.652RAB27A, MYO5A
vesicle localization (GO:0051648) 4.852RAB27A, MYO5A
regulation of localization (GO:0032879) 1.942RAB27A, MYO5A
single-organism localization (GO:1902578) 2.092RAB27A, MYO5A
pigmentation (GO:0043473) 5.92RAB27A, MYO5A
secretion (GO:0046903) 3.382RAB27A, MYO5A
melanosome localization (GO:0032400) 6.592RAB27A, MYO5A
vesicle-mediated transport (GO:0016192) 2.722RAB27A, MYO5A
establishment of pigment granule localization (GO:0051905) 6.592RAB27A, MYO5A
pigment granule transport (GO:0051904) 6.642RAB27A, MYO5A
organelle localization (GO:0051640) 3.942RAB27A, MYO5A
single-organism cellular localization (GO:1902580) 3.162RAB27A, MYO5A

NET-GE enrichment

Term New enriched termICP valueGenes
antigen processing and presentation (GO:0019882) NEW4.360.015RAB27A, MLPH, MYO5A
melanocyte differentiation (GO:0030318) -6.730.0RAB27A, MLPH, MYO5A
pigment cell differentiation (GO:0050931) -6.640.0RAB27A, MLPH, MYO5A
establishment of pigment granule localization (GO:0051905) -6.590.011RAB27A, MYO5A
pigment granule transport (GO:0051904) -6.640.008RAB27A, MYO5A
vesicle localization (GO:0051648) -4.850.003MLPH, MYO5A
epithelial cell differentiation (GO:0030855) NEW3.980.001RAB27A, MLPH, MYO5A
neuroepithelial cell differentiation (GO:0060563) NEW6.510.0RAB27A, MLPH, MYO5A
melanosome transport (GO:0032402) -6.680.007RAB27A, MYO5A
establishment of melanosome localization (GO:0032401) -6.640.009RAB27A, MYO5A
establishment of vesicle localization (GO:0051650) -4.910.021RAB27A, MYO5A
organelle localization (GO:0051640) -3.940.012MLPH, MYO5A
columnar/cuboidal epithelial cell differentiation (GO:0002065) NEW5.840.0RAB27A, MLPH, MYO5A
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular vesicle (GO:1903561) 1.893RAB27A, MLPH, MYO5A
extracellular organelle (GO:0043230) 1.893RAB27A, MLPH, MYO5A
vesicle (GO:0031982) 1.643RAB27A, MLPH, MYO5A
cell part (GO:0044464) 0.113RAB27A, MLPH, MYO5A
organelle (GO:0043226) 0.43RAB27A, MLPH, MYO5A
neuron part (GO:0097458) 2.643RAB27A, MLPH, MYO5A
cytoplasmic part (GO:0044444) 0.823RAB27A, MLPH, MYO5A
neuron projection (GO:0043005) 3.123RAB27A, MLPH, MYO5A
intracellular part (GO:0044424) 0.283RAB27A, MLPH, MYO5A
membrane-bounded vesicle (GO:0031988) 1.713RAB27A, MLPH, MYO5A
cell projection (GO:0042995) 2.473RAB27A, MLPH, MYO5A
membrane-bounded organelle (GO:0043227) 0.473RAB27A, MLPH, MYO5A
extracellular region part (GO:0044421) 1.573RAB27A, MLPH, MYO5A
extracellular exosome (GO:0070062) 1.893RAB27A, MLPH, MYO5A
membrane (GO:0016020) 0.682RAB27A, MYO5A
lytic vacuole (GO:0000323) 3.892RAB27A, MYO5A
pigment granule (GO:0048770) 5.222RAB27A, MYO5A
dendrite (GO:0030425) 3.922RAB27A, MLPH
intracellular organelle (GO:0043229) 0.512RAB27A, MYO5A
cilium (GO:0005929) 3.892RAB27A, MYO5A
cytoplasm (GO:0005737) 1.012MLPH, MYO5A
lysosome (GO:0005764) 3.892RAB27A, MYO5A
primary cilium (GO:0072372) 4.642RAB27A, MYO5A
vacuole (GO:0005773) 2.922RAB27A, MYO5A
cytoplasmic vesicle (GO:0031410) 2.872RAB27A, MYO5A
late endosome (GO:0005770) 4.852RAB27A, MYO5A
nonmotile primary cilium (GO:0031513) 5.142RAB27A, MYO5A
Golgi apparatus (GO:0005794) 2.72RAB27A, MYO5A
secretory vesicle (GO:0099503) 4.02RAB27A, MYO5A
secretory granule (GO:0030141) 4.342RAB27A, MYO5A
intracellular vesicle (GO:0097708) 2.862RAB27A, MYO5A
photoreceptor outer segment (GO:0001750) 5.782RAB27A, MYO5A
melanosome (GO:0042470) 5.222RAB27A, MYO5A
intracellular membrane-bounded organelle (GO:0043231) 0.62RAB27A, MYO5A
cytosol (GO:0005829) 1.682RAB27A, MYO5A
intracellular (GO:0005622) 2.372RAB27A, MLPH
intracellular organelle part (GO:0044446) 0.812RAB27A, MYO5A
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122RAB27A, MYO5A
endosome (GO:0005768) 3.252RAB27A, MYO5A
organelle part (GO:0044422) 0.792RAB27A, MYO5A

NET-GE enrichment

Term New enriched termICP valueGenes
melanosome (GO:0042470) -5.220.005RAB27A, MYO5A
secretory granule membrane (GO:0030667) NEW5.50.029RAB27A, MYO5A
primary cilium (GO:0072372) -4.640.006RAB27A, MYO5A
microtubule plus-end (GO:0035371) NEW6.970.0MLPH, MYO5A
pigment granule (GO:0048770) -5.220.005RAB27A, MYO5A
nonmotile primary cilium (GO:0031513) -5.140.003RAB27A, MYO5A
myosin complex (GO:0016459) NEW5.550.011RAB27A, MYO5A
cilium (GO:0005929) -3.890.036RAB27A, MYO5A
photoreceptor outer segment (GO:0001750) -5.780.001RAB27A, MYO5A
cell cortex part (GO:0044448) NEW5.010.0RAB27A, MLPH, MYO5A
actomyosin (GO:0042641) NEW5.660.017MLPH, MYO5A