Disease table of OCULOCUTANEOUS ALBINISM OMIM ID: PS203100

Gene-disease associations table

GeneAssociated with OCULOCUTANEOUS ALBINISM inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
C10orf11ClinVar, OMIMHGNC link10q22.21PS203100
MC1ROMIMHGNC link16q24.34PS227220, 613098, PS155600, PS203100
SLC24A5ClinVar, OMIMHGNC link15q21.12PS227220, PS203100
SLC45A2ClinVar, OMIM, HUMSAVARHGNC link5p13.22PS227220, PS203100
TYRP1ClinVar, OMIM, HUMSAVARHGNC link9p232PS227220, PS203100
OCA2ClinVar, OMIM, HUMSAVARHGNC link15q13.12PS227220, PS203100
TYRClinVar, OMIM, HUMSAVARHGNC link11q14.34PS193500, PS227220, PS155600, PS203100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
15q2OCA2, SLC24A5
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
152OCA2, SLC24A5
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
TFEBNO2TYRP1, TYR2TYRP1, TYR
MITFNO27BEST1, MET, MC1R, TYR, BCL2A1, TRAP, FOS, DCT, BIRC7, TRPM1, CD82, ITGA4, PPARGC1A, KIT, GPNMB, MLANA, KCNMA1, OCA2, PMEL, HOXB4, CDK2, PRKCB, TYRP1, CTSK, HIF1A, ACP5, SERPINF14TYRP1, MC1R, TYR, OCA2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
MC1RYES1MITF0
TYRP1YES2TFEB, MITF0
OCA2YES3LEF1, HLTF, MITF0
TYRYES4TFEB, OTX2, SOX9, MITF0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MC1RSLC24A5No-1ASIP
MC1RSLC45A2No-1MITF

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Melanogenesishsa049165.973TYRP1, MC1R, TYR
Metabolic pathwayshsa011002.492TYRP1, TYR
Tyrosine metabolismhsa003507.642TYRP1, TYR

NET-GE enrichment

Term New enriched termICP valueGenes
Tyrosine metabolism (hsa00350) -7.640.001TYRP1, TYR
Melanogenesis (hsa04916) -5.970.0TYRP1, MC1R, TYR
Endocrine systemNEW3.260.016TYRP1, TYR, MC1R
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185TYRP1, TYR, SLC24A5, MC1R, OCA2
protein binding (GO:0005515) 0.464TYRP1, TYR, MC1R, OCA2
substrate-specific transmembrane transporter activity (GO:0022891) 2.93SLC24A5, SLC45A2, OCA2
cation binding (GO:0043169) 1.43TYRP1, TYR, SLC24A5
substrate-specific transporter activity (GO:0022892) 2.723SLC45A2, SLC24A5, OCA2
transporter activity (GO:0005215) 2.573SLC45A2, SLC24A5, OCA2
ion binding (GO:0043167) 1.363TYRP1, TYR, SLC24A5
transmembrane transporter activity (GO:0022857) 2.823SLC24A5, SLC45A2, OCA2
metal ion binding (GO:0046872) 1.413TYRP1, TYR, SLC24A5
monooxygenase activity (GO:0004497) 5.12TYRP1, TYR
copper ion binding (GO:0005507) 5.712TYRP1, TYR
secondary active transmembrane transporter activity (GO:0015291) 4.292SLC45A2, SLC24A5
symporter activity (GO:0015293) 4.782SLC45A2, SLC24A5
transition metal ion binding (GO:0046914) 2.482TYRP1, TYR
catalytic activity (GO:0003824) 1.052TYRP1, TYR
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) 4.652TYRP1, TYR
ion transmembrane transporter activity (GO:0015075) 3.042SLC45A2, SLC24A5
protein homodimerization activity (GO:0042803) 3.162TYRP1, TYR
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716) 8.642TYRP1, TYR
active transmembrane transporter activity (GO:0022804) 3.852SLC45A2, SLC24A5
cation transmembrane transporter activity (GO:0008324) 3.322SLC45A2, SLC24A5
protein heterodimerization activity (GO:0046982) 3.642TYRP1, TYR
protein dimerization activity (GO:0046983) 2.722TYRP1, TYR
identical protein binding (GO:0042802) 2.632TYRP1, TYR
oxidoreductase activity (GO:0016491) 3.122TYRP1, TYR

NET-GE enrichment

Term New enriched termICP valueGenes
monooxygenase activity (GO:0004497) -5.10.02TYRP1, TYR
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716) -8.640.0TYRP1, TYR
copper ion binding (GO:0005507) -5.710.006TYRP1, TYR
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.267C10orf11, SLC45A2, MC1R, TYR, TYRP1, OCA2, SLC24A5
single-organism cellular process (GO:0044763) 0.657C10orf11, SLC45A2, MC1R, TYR, TYRP1, OCA2, SLC24A5
single-organism process (GO:0044699) 0.487C10orf11, SLC45A2, MC1R, TYR, TYRP1, OCA2, SLC24A5
cellular biosynthetic process (GO:0044249) 1.375TYRP1, MC1R, SLC45A2, TYR, OCA2
organic cyclic compound biosynthetic process (GO:1901362) 1.665TYRP1, MC1R, SLC45A2, TYR, OCA2
organic cyclic compound metabolic process (GO:1901360) 1.265TYRP1, MC1R, SLC45A2, TYR, OCA2
organic substance biosynthetic process (GO:1901576) 1.345TYRP1, MC1R, SLC45A2, TYR, OCA2
single-organism metabolic process (GO:0044710) 1.635TYRP1, MC1R, SLC45A2, TYR, OCA2
single-organism biosynthetic process (GO:0044711) 2.85TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment metabolic process (GO:0042440) 5.595TYRP1, MC1R, SLC45A2, TYR, OCA2
secondary metabolite biosynthetic process (GO:0044550) 6.735TYRP1, MC1R, SLC45A2, TYR, OCA2
organic substance metabolic process (GO:0071704) 0.635TYRP1, MC1R, SLC45A2, TYR, OCA2
melanin metabolic process (GO:0006582) 7.095TYRP1, MC1R, SLC45A2, TYR, OCA2
phenol-containing compound biosynthetic process (GO:0046189) 6.265TYRP1, MC1R, SLC45A2, TYR, OCA2
secondary metabolic process (GO:0019748) 5.885TYRP1, MC1R, SLC45A2, TYR, OCA2
cellular aromatic compound metabolic process (GO:0006725) 1.35TYRP1, MC1R, SLC45A2, TYR, OCA2
biosynthetic process (GO:0009058) 1.325TYRP1, MC1R, SLC45A2, TYR, OCA2
melanin biosynthetic process (GO:0042438) 7.165TYRP1, MC1R, SLC45A2, TYR, OCA2
metabolic process (GO:0008152) 0.585TYRP1, MC1R, SLC45A2, TYR, OCA2
phenol-containing compound metabolic process (GO:0018958) 5.335TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment biosynthetic process (GO:0046148) 5.865TYRP1, MC1R, SLC45A2, TYR, OCA2
pigmentation (GO:0043473) 5.95TYRP1, MC1R, SLC45A2, TYR, OCA2
cellular metabolic process (GO:0044237) 0.695TYRP1, MC1R, SLC45A2, TYR, OCA2
aromatic compound biosynthetic process (GO:0019438) 1.75TYRP1, MC1R, SLC45A2, TYR, OCA2
organic hydroxy compound biosynthetic process (GO:1901617) 4.985TYRP1, MC1R, SLC45A2, TYR, OCA2
organic hydroxy compound metabolic process (GO:1901615) 3.845TYRP1, MC1R, SLC45A2, TYR, OCA2
response to stimulus (GO:0050896) 1.224SLC45A2, MC1R, SLC24A5, TYR
developmental process (GO:0032502) 1.363MC1R, TYR, OCA2
single-organism developmental process (GO:0044767) 1.493MC1R, TYR, OCA2
cell differentiation (GO:0030154) 2.143TYRP1, C10orf11, OCA2
melanocyte differentiation (GO:0030318) 6.733TYRP1, C10orf11, OCA2
regulation of metabolic process (GO:0019222) 1.023TYRP1, MC1R, SLC24A5
anatomical structure development (GO:0048856) 1.583MC1R, TYR, OCA2
cellular developmental process (GO:0048869) 1.823TYRP1, C10orf11, OCA2
pigment cell differentiation (GO:0050931) 6.643TYRP1, C10orf11, OCA2
transport (GO:0006810) 1.513SLC24A5, SLC45A2, OCA2
regulation of biosynthetic process (GO:0009889) 1.373TYRP1, MC1R, SLC24A5
sensory perception (GO:0007600) 2.933MC1R, SLC45A2, TYR
regulation of cellular process (GO:0050794) 0.53TYRP1, MC1R, SLC24A5
regulation of cellular biosynthetic process (GO:0031326) 1.383TYRP1, MC1R, SLC24A5
regulation of cellular metabolic process (GO:0031323) 1.073TYRP1, MC1R, SLC24A5
multicellular organismal process (GO:0032501) 1.453MC1R, SLC45A2, TYR
biological regulation (GO:0065007) 0.393TYRP1, MC1R, SLC24A5
neurological system process (GO:0050877) 2.643MC1R, SLC45A2, TYR
localization (GO:0051179) 1.43SLC45A2, SLC24A5, OCA2
establishment of localization (GO:0051234) 1.483SLC24A5, SLC45A2, OCA2
regulation of biological process (GO:0050789) 0.453TYRP1, MC1R, SLC24A5
system process (GO:0003008) 2.33MC1R, SLC45A2, TYR
primary metabolic process (GO:0044238) 0.692TYRP1, MC1R
positive regulation of metabolic process (GO:0009893) 1.742TYRP1, MC1R
positive regulation of biosynthetic process (GO:0009891) 2.292TYRP1, MC1R
response to radiation (GO:0009314) 3.692MC1R, TYR
positive regulation of cellular metabolic process (GO:0031325) 1.812TYRP1, MC1R
developmental pigmentation (GO:0048066) 6.962SLC45A2, OCA2
nitrogen compound metabolic process (GO:0006807) 1.132MC1R, TYR
response to light stimulus (GO:0009416) 4.082MC1R, TYR
small molecule metabolic process (GO:0044281) 2.382TYRP1, TYR
regulation of melanin biosynthetic process (GO:0048021) 7.782TYRP1, SLC24A5
eye pigment metabolic process (GO:0042441) 8.342TYR, OCA2
positive regulation of cellular biosynthetic process (GO:0031328) 2.32TYRP1, MC1R
pigment metabolic process involved in developmental pigmentation (GO:0043324) 8.342TYR, OCA2
single-organism localization (GO:1902578) 2.092SLC45A2, OCA2
organic substance transport (GO:0071702) 2.152SLC45A2, OCA2
positive regulation of biological process (GO:0048518) 1.22TYRP1, MC1R
negative regulation of biological process (GO:0048519) 1.332MC1R, SLC24A5
regulation of secondary metabolic process (GO:0043455) 7.242TYRP1, SLC24A5
visual perception (GO:0007601) 4.412TYR, SLC45A2
sensory perception of light stimulus (GO:0050953) 4.42TYR, SLC45A2
eye pigment biosynthetic process (GO:0006726) 8.342TYR, OCA2
single-organism transport (GO:0044765) 2.182SLC45A2, OCA2
transmembrane transport (GO:0055085) 2.722SLC24A5, OCA2
oxidation-reduction process (GO:0055114) 2.912TYRP1, TYR
response to abiotic stimulus (GO:0009628) 2.82MC1R, TYR
cell proliferation (GO:0008283) 3.232TYR, OCA2
organic acid metabolic process (GO:0006082) 3.012TYRP1, TYR
pigment metabolic process involved in pigmentation (GO:0043474) 8.342TYR, OCA2
regulation of secondary metabolite biosynthetic process (GO:1900376) 7.782TYRP1, SLC24A5
response to UV (GO:0009411) 4.882MC1R, TYR
positive regulation of cellular process (GO:0048522) 1.32TYRP1, MC1R

NET-GE enrichment

Term New enriched termICP valueGenes
pigmentation (GO:0043473) -5.90.019MC1R, SLC45A2
single-organism biosynthetic process (GO:0044711) -2.80.004TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment metabolic process (GO:0042440) -5.590.0TYRP1, MC1R, SLC45A2, TYR, OCA2
melanocyte differentiation (GO:0030318) -6.730.0TYRP1, C10orf11, OCA2
pigment metabolic process involved in pigmentation (GO:0043474) -8.340.0TYR, OCA2
phenol-containing compound biosynthetic process (GO:0046189) -6.260.0TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment cell differentiation (GO:0050931) -6.640.0TYRP1, C10orf11, OCA2
secondary metabolic process (GO:0019748) -5.880.0TYRP1, MC1R, SLC45A2, TYR, OCA2
eye pigment metabolic process (GO:0042441) -8.340.0TYR, OCA2
melanin metabolic process (GO:0006582) -7.090.0TYRP1, MC1R, SLC45A2, TYR, OCA2
eye pigment biosynthetic process (GO:0006726) -8.340.0TYR, OCA2
secondary metabolite biosynthetic process (GO:0044550) -6.730.0TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment metabolic process involved in developmental pigmentation (GO:0043324) -8.340.0TYR, OCA2
organic hydroxy compound biosynthetic process (GO:1901617) -4.980.0TYRP1, MC1R, SLC45A2, TYR, OCA2
melanin biosynthetic process (GO:0042438) -7.160.0TYRP1, MC1R, SLC45A2, TYR, OCA2
epithelial cell differentiation (GO:0030855) NEW3.980.032TYRP1, C10orf11, OCA2
neuroepithelial cell differentiation (GO:0060563) NEW6.510.0TYRP1, C10orf11, OCA2
phenol-containing compound metabolic process (GO:0018958) -5.330.0TYRP1, MC1R, SLC45A2, TYR, OCA2
organic hydroxy compound metabolic process (GO:1901615) -3.840.006TYRP1, MC1R, SLC45A2, TYR, OCA2
pigment biosynthetic process (GO:0046148) -5.860.0TYRP1, MC1R, SLC45A2, TYR, OCA2
columnar/cuboidal epithelial cell differentiation (GO:0002065) NEW5.840.0TYRP1, C10orf11, OCA2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane part (GO:0044425) 0.956TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
integral component of membrane (GO:0016021) 1.146TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
membrane (GO:0016020) 0.686TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
cell part (GO:0044464) 0.116TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
intrinsic component of membrane (GO:0031224) 1.136TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
organelle membrane (GO:0031090) 1.975TYRP1, SLC45A2, TYR, SLC24A5, OCA2
bounding membrane of organelle (GO:0098588) 2.395TYRP1, SLC45A2, TYR, SLC24A5, OCA2
intracellular organelle part (GO:0044446) 0.815TYRP1, SLC24A5, TYR, SLC45A2, OCA2
cytoplasmic part (GO:0044444) 0.825TYRP1, SLC45A2, TYR, SLC24A5, OCA2
intracellular part (GO:0044424) 0.285TYRP1, SLC45A2, TYR, SLC24A5, OCA2
organelle part (GO:0044422) 0.795TYRP1, SLC45A2, TYR, SLC24A5, OCA2
cytoplasmic vesicle part (GO:0044433) 3.414TYRP1, TYR, SLC45A2, OCA2
cytoplasmic vesicle membrane (GO:0030659) 3.674TYRP1, TYR, SLC45A2, OCA2
whole membrane (GO:0098805) 2.854TYRP1, TYR, SLC45A2, OCA2
melanosome membrane (GO:0033162) 7.614TYRP1, TYR, SLC45A2, OCA2
vesicle membrane (GO:0012506) 3.634TYRP1, TYR, SLC45A2, OCA2
melanosome (GO:0042470) 5.223TYRP1, TYR, SLC24A5
vesicle (GO:0031982) 1.643TYRP1, TYR, SLC24A5
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.123TYRP1, TYR, SLC24A5
cytoplasmic vesicle (GO:0031410) 2.873TYRP1, TYR, SLC24A5
pigment granule (GO:0048770) 5.223TYRP1, TYR, SLC24A5
membrane-bounded vesicle (GO:0031988) 1.713TYRP1, TYR, SLC24A5
intracellular organelle (GO:0043229) 0.513TYRP1, TYR, SLC24A5
intracellular vesicle (GO:0097708) 2.863TYRP1, TYR, SLC24A5
membrane-bounded organelle (GO:0043227) 0.473TYRP1, TYR, SLC24A5
organelle (GO:0043226) 0.43TYRP1, TYR, SLC24A5
intracellular membrane-bounded organelle (GO:0043231) 0.63TYRP1, TYR, SLC24A5
cytoplasm (GO:0005737) 1.012TYR, OCA2
endosomal part (GO:0044440) 3.732TYRP1, OCA2
intrinsic component of plasma membrane (GO:0031226) 2.532MC1R, SLC24A5
vacuolar membrane (GO:0005774) 3.452TYRP1, OCA2
Golgi apparatus part (GO:0044431) 3.02TYR, SLC24A5
vacuolar part (GO:0044437) 3.262TYRP1, OCA2
integral component of plasma membrane (GO:0005887) 2.572MC1R, SLC24A5
plasma membrane part (GO:0044459) 1.952MC1R, SLC24A5
endosome membrane (GO:0010008) 3.832TYRP1, OCA2

NET-GE enrichment

Term New enriched termICP valueGenes
melanosome (GO:0042470) -5.220.0TYRP1, TYR, SLC24A5
cytoplasmic membrane-bounded vesicle (GO:0016023) -3.120.032TYRP1, TYR, SLC24A5
cytoplasmic vesicle (GO:0031410) -2.870.048TYRP1, TYR, SLC24A5
integral component of membrane (GO:0016021) -1.140.025TYR, SLC45A2, MC1R, TYRP1, OCA2, SLC24A5
pigment granule (GO:0048770) -5.220.0TYRP1, TYR, SLC24A5
cytoplasmic vesicle part (GO:0044433) -3.410.001TYRP1, TYR, SLC45A2, OCA2
cytoplasmic vesicle membrane (GO:0030659) -3.670.014TYRP1, TYR, SLC45A2, OCA2
vesicle membrane (GO:0012506) -3.630.016TYRP1, TYR, SLC45A2, OCA2
melanosome membrane (GO:0033162) -7.610.0TYRP1, TYR, SLC45A2, OCA2