OCA4
MCID: ALB019
MIFTS: 47

Albinism, Oculocutaneous, Type Iv (OCA4)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 56 39
Oca4 56 12 24 58 73
Oculocutaneous Albinism Type 4 24 58 29 6
Oculocutaneous Albinism, Type Iv 56 13 71
Oculocutaneous Albinism Type Iv 12 73 15
Albinism, Oculocutaneous, 4 73

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 4
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

31
albinism, oculocutaneous, type iv:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070098
OMIM 56 606574
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1847836
Orphanet 58 ORPHA79435
MedGen 41 C1847836
UMLS 71 C1847836

Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 73 Albinism, oculocutaneous, 4: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary : Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to strabismus and skin carcinoma. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Tyrosine metabolism. Affiliated tissues include skin, eye and testes, and related phenotypes are strabismus and albinism

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.

More information from OMIM: 606574 PS203100
GeneReviews: NBK1510

Related Diseases for Albinism, Oculocutaneous, Type Iv

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V

Diseases related to Albinism, Oculocutaneous, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 strabismus 29.8 TYRP1 TYR SLC24A5 GPR143
2 skin carcinoma 29.5 TYRP1 TYR MC1R ASIP
3 microphthalmia 29.3 TYRP1 TYR MC1R DCT
4 pathologic nystagmus 29.2 TYRP1 TYR SLC45A2 OCA2 LRMDA GPR143
5 melanoma 29.0 TYRP1 TYR SLC45A2 OCA2 MC1R DCT
6 albinism 29.0 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
7 albinism, oculocutaneous, type ii 28.3 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
8 albinism, oculocutaneous, type ia 28.0 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
9 oculocutaneous albinism 26.6 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
10 ochronosis 10.2 TYRP1 TYR
11 dowling-degos disease 1 10.2 TYRP1 TYR
12 autosomal recessive disease 10.2
13 hypopigmentation of the skin 10.2
14 alpha-methylacyl-coa racemase deficiency 10.2
15 refractive error 10.2
16 mechanical strabismus 10.1
17 waardenburg syndrome, type 2c 10.1 TYRP1 DCT
18 aland island eye disease 10.0 LRMDA GPR143
19 ichthyosis, congenital, autosomal recessive 11 10.0 SLC45A2 SLC24A5
20 nodular malignant melanoma 10.0 TYR MC1R
21 melanocytic nevus syndrome, congenital 10.0 TYR MC1R
22 amelanotic melanoma 9.9 TYRP1 TYR DCT
23 autosomal recessive congenital ichthyosis 9.9 SLC45A2 SLC24A5 OCA2
24 acute contagious conjunctivitis 9.9 TYRP1 TYR SLC45A2 OCA2
25 acute conjunctivitis 9.9 TYRP1 TYR SLC45A2 OCA2
26 chediak-higashi syndrome 9.9 TYRP1 TYR DCT
27 waardenburg's syndrome 9.9 TYRP1 TYR DCT
28 syndromic oculocutaneous albinism 9.8 SLC24A5 SLC24A4 OCA2
29 vogt-koyanagi-harada disease 9.8 TYRP1 TYR
30 albinism, oculocutaneous, type vii 9.6 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
31 congenital nystagmus 9.6 TYR OCA2 MC1R GPR143
32 tietz albinism-deafness syndrome 9.5 TYRP1 TYR SLC45A2 OCA2 DCT
33 melanoma, uveal 9.5 TYR MC1R DCT
34 vitiligo-associated multiple autoimmune disease susceptibility 1 9.5 TYRP1 TYR MC1R DCT
35 piebald trait 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
36 albinism, oculocutaneous, type v 9.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
37 ocular albinism 9.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
38 hermansky-pudlak syndrome 8.9 TYRP1 TYR SLC45A2 OCA2 DCT BLOC1S3
39 albinism, oculocutaneous, type ib 8.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
40 melanoma, cutaneous malignant 1 8.4 TYRP1 TYR SLC45A2 SLC24A4 OCA2 MC1R
41 albinism, oculocutaneous, type iii 7.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Iv:



Diseases related to Albinism, Oculocutaneous, Type Iv

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iv

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
5 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
6 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
7 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
8 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
9 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
11 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
12 hypoplasia of the fovea 58 31 occasional (7.5%) Occasional (29-5%) HP:0007750
13 hypopigmentation of hair 58 31 Very frequent (99-80%) HP:0005599
14 blue irides 31 HP:0000635
15 hypopigmentation of the skin 58 Very frequent (99-80%)
16 hypopigmentation of the fundus 31 HP:0007894
17 macular hypoplasia 31 HP:0001104

Clinical features from OMIM:

606574

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Iv:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 ASIP BLOC1S3 G6PC3 MC1R OCA2 SLC24A4
2 behavior/neurological MP:0005386 10.15 ASIP BLOC1S3 LRMDA MC1R OCA2 SLC24A5
3 craniofacial MP:0005382 10.08 ASIP BLOC1S3 MC1R OCA2 SLC24A4 SLC24A5
4 homeostasis/metabolism MP:0005376 10.02 ASIP DCT G6PC3 OCA2 SLC24A4 SLC24A5
5 hematopoietic system MP:0005397 10.01 ASIP BLOC1S3 G6PC3 LRMDA MC1R OCA2
6 hearing/vestibular/ear MP:0005377 9.98 ASIP BLOC1S3 MC1R OCA2 SLC24A5 TYR
7 immune system MP:0005387 9.92 ASIP BLOC1S3 G6PC3 LRMDA MC1R OCA2
8 integument MP:0010771 9.91 ASIP BLOC1S3 DCT MC1R OCA2 SLC24A5
9 pigmentation MP:0001186 9.65 ASIP BLOC1S3 DCT GPR143 MC1R OCA2
10 limbs/digits/tail MP:0005371 9.55 ASIP BLOC1S3 MC1R OCA2 TYR
11 vision/eye MP:0005391 9.28 ASIP BLOC1S3 DCT GPR143 OCA2 SLC24A5

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

Search Clinical Trials , NIH Clinical Center for Albinism, Oculocutaneous, Type Iv

Genetic Tests for Albinism, Oculocutaneous, Type Iv

Genetic tests related to Albinism, Oculocutaneous, Type Iv:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 4 29 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Iv:

40
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Iv

Articles related to Albinism, Oculocutaneous, Type Iv:

(show top 50) (show all 62)
# Title Authors PMID Year
1
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean. 61 24 56 6
16162179 2005
2
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. 61 24 56 6
14961451 2004
3
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 61 24 56 6
14722913 2004
4
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. 61 24 56 6
11574907 2001
5
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? 61 6
16868655 2006
6
Oculocutaneous Albinism Type 4 61 6
20301683 2005
7
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. 61 24
28192564 2017
8
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity. 61 24
26057890 2015
9
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. 61 24
19610114 2009
10
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. 61 24
18407468 2008
11
SLC45A2 variations in Indian oculocutaneous albinism patients. 61 24
17768386 2007
12
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. 61 24
12829739 2003
13
RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM. 6
14070830 1964
14
Clinical evaluation and molecular screening of a large consecutive series of albino patients. 24
27734839 2017
15
Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases. 24
22681652 2012
16
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. 24
21458243 2011
17
Skin cancers amongst four Nigerian albinos. 24
19538377 2009
18
Albinism: classification, clinical characteristics, and recent findings. 24
19390472 2009
19
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 24
19060277 2009
20
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 24
18821858 2008
21
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 24
18463683 2008
22
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. 24
15565285 2005
23
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. 24
15656822 2005
24
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. 24
12028586 2002
25
Malignant melanoma in a patient with oculocutaneous albinism. 24
11003720 2000
26
Pheomelanin as well as eumelanin is present in human epidermis. 24
2071942 1991
27
Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India. 61
31630438 2019
28
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. 61
31077556 2019
29
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients. 61
30019506 2019
30
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. 61
28737247 2017
31
Delineating the genetic heterogeneity of OCA in Hungarian patients. 61
28629449 2017
32
Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. 61
28298193 2017
33
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach. 61
27019209 2016
34
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. 61
25703744 2015
35
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. 61
26016411 2015
36
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model. 61
25760657 2015
37
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. 61
25530116 2015
38
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
39
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. 61
24096233 2014
40
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. 61
24647637 2014
41
Albinism in Europe. 61
23668539 2013
42
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. 61
23721540 2013
43
Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease. 61
23205854 2013
44
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 61
23171239 2012
45
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 61
22294196 2012
46
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. 61
22490798 2012
47
Molecular analysis of Korean patients with oculocutaneous albinism. 61
22042571 2012
48
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. 61
21739261 2011
49
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. 61
21968107 2011
50
Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms. 61
21409566 2011

Variations for Albinism, Oculocutaneous, Type Iv

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Iv:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC45A2 NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)deletion Pathogenic 209971 rs759411189 5:33947363-33947363 5:33947258-33947258
2 SLC45A2 NM_016180.5(SLC45A2):c.986del (p.Thr329fs)deletion Pathogenic 4500 rs387906317 5:33954512-33954512 5:33954407-33954407
3 SLC45A2 NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del)short repeat Pathogenic 4501 rs387906318 5:33964020-33964022 5:33963915-33963917
4 SLC45A2 NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)SNV Pathogenic 4502 rs121912620 5:33944889-33944889 5:33944784-33944784
5 SLC45A2 NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)SNV Pathogenic 4503 rs121912621 5:33982434-33982434 5:33982329-33982329
6 SLC45A2 NM_016180.5(SLC45A2):c.1121del (p.Leu374fs)deletion Pathogenic 4506 rs730880271 5:33951694-33951694 5:33951589-33951589
7 SLC45A2 NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs)duplication Pathogenic 374397 rs1057518722 5:33984525-33984526 5:33984420-33984421
8 SLC45A2 NM_016180.5(SLC45A2):c.1368+1G>TSNV Pathogenic 436759 rs1294369944 5:33947267-33947267 5:33947162-33947162
9 SLC45A2 NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)SNV Pathogenic 436760 rs562624441 5:33984479-33984479 5:33984374-33984374
10 SLC45A2 NM_016180.5(SLC45A2):c.563-1G>ASNV Pathogenic 4498 rs730880270 5:33964122-33964122 5:33964017-33964017
11 SLC45A2 NM_016180.5(SLC45A2):c.264del (p.Gly89fs)deletion Pathogenic/Likely pathogenic 242518 rs775387808 5:33984425-33984425 5:33984320-33984320
12 SLC45A2 NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)SNV Likely pathogenic 212206 rs797045970 5:33964106-33964106 5:33964001-33964001
13 SLC45A2 NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)SNV Likely pathogenic 627608 5:33984540-33984540 5:33984435-33984435
14 SLC45A2 NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)SNV Likely pathogenic 627610 5:33984498-33984498 5:33984393-33984393
15 SLC45A2 NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs)short repeat Conflicting interpretations of pathogenicity 353216 rs753485165 5:33951738-33951739 5:33951633-33951634
16 SLC45A2 NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)SNV Uncertain significance 212205 rs769448704 5:33947311-33947311 5:33947206-33947206
17 SLC45A2 NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)SNV Uncertain significance 627609 5:33984502-33984502 5:33984397-33984397
18 SLC45A2 NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs)duplication Uncertain significance 632460 rs780732891 5:33944771-33944772 5:33944666-33944667
19 SLC45A2 NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)SNV Uncertain significance 4499 rs121912619 5:33951733-33951733 5:33951628-33951628

UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Iv:

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SLC45A2 p.Pro58Ala VAR_022710 rs129058460
2 SLC45A2 p.Pro58Ser VAR_022711
3 SLC45A2 p.Asp157Asn VAR_022712 rs121912621
4 SLC45A2 p.Gly188Val VAR_022713
5 SLC45A2 p.Trp202Cys VAR_022714 rs146802593
6 SLC45A2 p.Tyr317Cys VAR_022717
7 SLC45A2 p.Leu361Pro VAR_022718 rs121912619
8 SLC45A2 p.Ala477Thr VAR_022719 rs135299911
9 SLC45A2 p.Ala486Val VAR_022720 rs121912620
10 SLC45A2 p.Met42Ile VAR_067071
11 SLC45A2 p.Gly64Ser VAR_067072
12 SLC45A2 p.Thr302Ser VAR_067073 rs553073635
13 SLC45A2 p.Arg348Cys VAR_067074 rs372465070
14 SLC45A2 p.Leu60Arg VAR_072602 rs925113610
15 SLC45A2 p.Gly110Arg VAR_073166 rs762813061
16 SLC45A2 p.Leu151Pro VAR_073167
17 SLC45A2 p.Asp160His VAR_073168 rs760780597
18 SLC45A2 p.His233Gln VAR_073169
19 SLC45A2 p.Gly349Arg VAR_073170 rs146930801
20 SLC45A2 p.Glu368Lys VAR_073171 rs130713718
21 SLC45A2 p.Phe418Leu VAR_073172 rs144503724

Expression for Albinism, Oculocutaneous, Type Iv

Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Iv.

Pathways for Albinism, Oculocutaneous, Type Iv

Pathways related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 TYRP1 TYR MC1R DCT ASIP
2
Show member pathways
11.21 TYRP1 TYR DCT
3 9.72 TYRP1 TYR SLC45A2 OCA2 DCT

GO Terms for Albinism, Oculocutaneous, Type Iv

Cellular components related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.85 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
2 cell GO:0005623 9.65 SLC24A5 SLC24A4 GPR143 BLOC1S3 ASIP
3 melanosome GO:0042470 9.35 TYRP1 TYR SLC24A5 GPR143 DCT
4 melanosome membrane GO:0033162 9.1 TYRP1 TYR SLC45A2 OCA2 GPR143 DCT

Biological processes related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 TYR SLC45A2 GPR143
2 melanocyte differentiation GO:0030318 9.62 TYRP1 SLC24A5 OCA2 LRMDA
3 melanosome transport GO:0032402 9.58 GPR143 BLOC1S3 ASIP
4 melanosome organization GO:0032438 9.56 TYRP1 GPR143 BLOC1S3 ASIP
5 eye pigment biosynthetic process GO:0006726 9.54 TYR OCA2 GPR143
6 pigmentation GO:0043473 9.5 TYRP1 TYR OCA2 MC1R DCT BLOC1S3
7 anion transmembrane transport GO:0098656 9.49 SLC24A5 SLC24A4
8 positive regulation of melanin biosynthetic process GO:0048023 9.46 TYRP1 ASIP
9 developmental pigmentation GO:0048066 9.46 SLC45A2 OCA2 DCT BLOC1S3
10 melanin biosynthetic process from tyrosine GO:0006583 9.43 TYR DCT
11 melanin biosynthetic process GO:0042438 9.17 TYRP1 TYR SLC45A2 OCA2 MC1R DCT

Molecular functions related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A5 SLC24A4
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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