MCID: OCL002
MIFTS: 58

Oculocutaneous Albinism

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

Aliases & Classifications for Oculocutaneous Albinism

MalaCards integrated aliases for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 12 53 25 37 29 6 15
Albinism, Oculocutaneous 53 25
Oca 53 25
Albinism Oculocutaneous 55

Classifications:



Summaries for Oculocutaneous Albinism

Genetics Home Reference : 25 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

MalaCards based summary : Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism, oculocutaneous, type ii and chediak-higashi syndrome. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Tyrosine metabolism and Melanogenesis. The drugs Nitisinone and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are astigmatism and strabismus

NIH Rare Diseases : 53 Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by genemutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.

Disease Ontology : 12 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

Wikipedia : 76 Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous),... more...

Related Diseases for Oculocutaneous Albinism

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 Oculocutaneous Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 88, show less)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 34.0 MC1R OCA2 TYRP1
2 chediak-higashi syndrome 33.3 HPS1 TYR TYRP1
3 hermansky-pudlak syndrome 6 31.1 HPS5 HPS6
4 amelanotic melanoma 31.1 TYR TYRP1
5 hermansky-pudlak syndrome 5 30.9 HPS5 HPS6
6 ocular albinism 30.0 OCA2 SLC45A2 TYR TYRP1
7 strabismus 30.0 SLC24A5 TYR TYRP1
8 hermansky-pudlak syndrome 3 29.6 HPS3 HPS5 HPS6 TYR TYRP1
9 hermansky-pudlak syndrome 1 29.3 AP3B1 HPS1 HPS4 OCA2 SLC24A5 SLC45A2
10 albinism 28.1 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
11 storage pool platelet disease 27.4 AP3B1 BLOC1S6 HPS3 HPS4 HPS6
12 pulmonary fibrosis 27.2 HPS1 HPS3 HPS4 HPS5 HPS6
13 hermansky-pudlak syndrome 26.8 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
14 albinism, oculocutaneous, type ia 12.4
15 albinism, oculocutaneous, type iii 12.3
16 albinism, oculocutaneous, type ib 12.3
17 albinism, oculocutaneous, type iv 12.2
18 minimal pigment oculocutaneous albinism type 1 12.1
19 albinism, oculocutaneous, type v 11.9
20 albinism, oculocutaneous, type vi 11.8
21 albinism, oculocutaneous, type vii 11.8
22 hermansky-pudlak syndrome 2 11.8
23 kotzot-richter syndrome 11.4
24 hermansky-pudlak syndrome 4 11.2
25 hermansky-pudlak syndrome 10 11.2
26 albinism, minimal pigment type 11.1
27 albinism-microcephaly-digital anomalies syndrome 11.1
28 hermansky-pudlak syndrome 7 11.1
29 hermansky-pudlak syndrome 8 11.1
30 hermansky-pudlak syndrome 9 11.1
31 type i 10.5
32 melanoma 10.5
33 acute conjunctivitis 10.5 MC1R OCA2
34 dyschromatosis symmetrica hereditaria 10.4 OCA2 TYR TYRP1
35 congenital nystagmus 10.3 MC1R OCA2 TYR
36 acute contagious conjunctivitis 10.3 MC1R OCA2 TYR
37 melanocytic nevus syndrome, congenital 10.3 MC1R TYR
38 choroiditis 10.3
39 squamous cell carcinoma 10.2
40 angelman syndrome 10.1
41 prader-willi syndrome 10.1
42 schizophrenia 10.1
43 autism 10.1
44 basal cell carcinoma 1 10.1
45 cataract 10.1
46 keratoconus 10.1
47 basal cell carcinoma 10.1
48 hermansky-pudlak syndrome with pulmonary fibrosis 10.0 HPS1 HPS4
49 dowling-degos disease 1 10.0 TYR TYRP1
50 duane retraction syndrome 1 9.9
51 trichomegaly 9.9
52 glaucoma 3, primary congenital, a 9.9
53 maple syrup urine disease 9.9
54 hemophilia b 9.9
55 menkes disease 9.9
56 complement component 6 deficiency 9.9
57 alpha-methylacyl-coa racemase deficiency 9.9
58 amelogenesis imperfecta 9.9
59 bipolar disorder 9.9
60 burns 9.9
61 diabetes mellitus 9.9
62 hemophagocytic lymphohistiocytosis 9.9
63 motor neuron disease 9.9
64 neutropenia 9.9
65 colitis 9.9
66 dysplastic nevus syndrome 9.9
67 pigmentation disease 9.9
68 duane retraction syndrome 9.9
69 disease of mental health 9.9
70 keratosis 9.9
71 cheilitis 9.9
72 retinitis 9.9
73 plexiform neurofibroma 9.9
74 neuronitis 9.9
75 actinic keratosis 9.9
76 waardenburg's syndrome 9.9
77 meningitis 9.9
78 neurofibroma 9.9
79 refractive error 9.9
80 hemophilia 9.9
81 sickle cell disease 9.9
82 actinic cheilitis 9.9
83 basal cell carcinoma, multiple 9.9
84 bowen's disease 9.9
85 cryptophthalmos 9.9
86 isolated duane retraction syndrome 9.9
87 aneurysm 9.9
88 hermansky-pudlak syndrome without pulmonary fibrosis 9.2 HPS3 HPS5 HPS6

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



Diseases related to Oculocutaneous Albinism

Symptoms & Phenotypes for Oculocutaneous Albinism

Human phenotypes related to Oculocutaneous Albinism:

32 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 astigmatism 32 frequent (33%) HP:0000483
2 strabismus 32 frequent (33%) HP:0000486
3 visual impairment 32 frequent (33%) HP:0000505
4 myopia 32 frequent (33%) HP:0000545
5 photophobia 32 frequent (33%) HP:0000613
6 nystagmus 32 hallmark (90%) HP:0000639
7 cutaneous photosensitivity 32 hallmark (90%) HP:0000992
8 white eyelashes 32 frequent (33%) HP:0002227
9 basal cell carcinoma 32 occasional (7.5%) HP:0002671
10 melanoma 32 occasional (7.5%) HP:0002861
11 squamous cell carcinoma of the skin 32 occasional (7.5%) HP:0006739
12 generalized hypopigmentation 32 hallmark (90%) HP:0007513
13 iris hypopigmentation 32 hallmark (90%) HP:0007730
14 hypoplasia of the fovea 32 frequent (33%) HP:0007750
15 high hypermetropia 32 frequent (33%) HP:0008499
16 white hair 32 hallmark (90%) HP:0011364

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

46 (showing 14, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
2 hearing/vestibular/ear MP:0005377 10.26 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
3 craniofacial MP:0005382 10.25 AP3B1 BLOC1S3 HPS1 HPS5 HPS6 MC1R
4 homeostasis/metabolism MP:0005376 10.25 AP3B1 BLOC1S6 HPS1 HPS3 HPS4 HPS5
5 behavior/neurological MP:0005386 10.24 AP3B1 BLOC1S3 BLOC1S6 LRMDA MC1R OCA2
6 hematopoietic system MP:0005397 10.23 MC1R OCA2 TYRP1 AP3B1 BLOC1S3 BLOC1S6
7 integument MP:0010771 10.21 HPS1 HPS3 HPS4 HPS5 HPS6 MC1R
8 cellular MP:0005384 10.18 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 MC1R
9 immune system MP:0005387 10.14 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS5
10 pigmentation MP:0001186 10 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4 HPS5
11 limbs/digits/tail MP:0005371 9.92 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 MC1R
12 no phenotypic analysis MP:0003012 9.8 MC1R OCA2 TYR AP3B1 HPS1 HPS3
13 renal/urinary system MP:0005367 9.56 AP3B1 BLOC1S6 HPS5 HPS6 OCA2 TYR
14 vision/eye MP:0005391 9.44 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4

Drugs & Therapeutics for Oculocutaneous Albinism

Drugs for Oculocutaneous Albinism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 52, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
2
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
3
Carbidopa Approved Phase 2 28860-95-9 34359 38101
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 2 59-92-7 6047
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
8
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
9
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
10
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
11 Analgesics Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Anti-Inflammatory Agents Phase 2,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
15 Antirheumatic Agents Phase 2,Phase 1
16 Peripheral Nervous System Agents Phase 2,Phase 1
17 Antiparkinson Agents Phase 2
18 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
19 Autonomic Agents Phase 2
20 Carbidopa, levodopa drug combination Phase 2
21 Dopamine Agents Phase 2
22 Neurotransmitter Agents Phase 2
23 Protective Agents Phase 2,Phase 1
24 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
25 Angiotensin Receptor Antagonists Phase 1, Phase 2
26 Angiotensinogen Phase 1, Phase 2
27 Anti-Arrhythmia Agents Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Anticholesteremic Agents Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2,Phase 2
34 Antioxidants Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin Estolate Phase 1, Phase 2
37 Erythromycin Ethylsuccinate Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
45 Hypolipidemic Agents Phase 1, Phase 2
46 Leukotriene Antagonists Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Lipoxygenase Inhibitors Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2
51 Respiratory System Agents Phase 1, Phase 2
52
Lutein Approved, Investigational, Nutraceutical Not Applicable 127-40-2 6433159

Interventional clinical trials:

(showing 12, show less)
# Name Status NCT ID Phase Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
3 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
4 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
5 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
6 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
7 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
8 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263 Not Applicable
9 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
10 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
11 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
12 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

Genetic tests related to Oculocutaneous Albinism:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

41
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(showing 384, show less)
# Title Authors Year
1
Identification of TYR mutations in patients with oculocutaneous albinism. ( 29658579 )
2018
2
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
3
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
4
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
5
Retrospective analysis in oculocutaneous albinism patients for the 2.7A kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
6
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
7
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
8
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
9
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
10
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
11
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
12
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
13
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
14
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
15
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
16
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
17
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
18
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
19
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
20
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
21
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
22
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
23
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
24
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
25
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
26
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
27
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
28
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
29
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
30
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
31
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
32
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
33
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
34
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
35
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
36
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
37
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
38
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
39
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
40
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
41
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
42
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
43
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
44
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
45
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. ( 25703744 )
2015
46
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
47
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
48
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
49
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
50
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
51
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
52
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
53
Oculocutaneous albinism. ( 25763554 )
2015
54
Oculocutaneous Albinism in Sub-Saharan Africa: Adverse Sun-Associated Health Effects and Photoprotection. ( 25298350 )
2014
55
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. ( 24096233 )
2014
56
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. ( 24647637 )
2014
57
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations. ( 24461674 )
2014
58
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. ( 24659353 )
2014
59
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24876456 )
2014
60
An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism. ( 25005209 )
2014
61
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). ( 25216246 )
2014
62
Clinical utility gene card for: Oculocutaneous albinism. ( 24518832 )
2014
63
Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism. ( 24555117 )
2014
64
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. ( 25296693 )
2014
65
Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy. ( 24907210 )
2014
66
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
67
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
68
Maple syrup urine disease and oculocutaneous albinism in twins. ( 24741546 )
2014
69
Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis. ( 25182297 )
2014
70
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. ( 24118800 )
2014
71
Mutational analysis of oculocutaneous albinism: a compact review. ( 25093188 )
2014
72
Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism. ( 25323647 )
2014
73
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type a8!]. ( 25119903 )
2014
74
Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-eastern Nigeria. ( 24806601 )
2014
75
Evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24814965 )
2014
76
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. ( 24721949 )
2014
77
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism. ( 23985994 )
2014
78
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
79
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. ( 24934919 )
2014
80
Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or CalAc--a study of 83 cases. ( 24308209 )
2013
81
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. ( 23190901 )
2013
82
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ( 23504663 )
2013
83
Oculocutaneous Albinism: Identifying and Overcoming Barriers to Vision Care in a Nigerian Population. ( 24198136 )
2013
84
Pigmented choroidal nevus in a child with oculocutaneous albinism. ( 23352722 )
2013
85
Oculocutaneous albinism. ( 23772437 )
2013
86
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. ( 23050561 )
2013
87
Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism. ( 24075162 )
2013
88
Genetic analyses of Chinese patients with digenic oculocutaneous albinism. ( 23324268 )
2013
89
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. ( 23364476 )
2013
90
Newborn With Oculocutaneous Albinism. ( 24145105 )
2013
91
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. ( 23970088 )
2013
92
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. ( 23882993 )
2013
93
MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family. ( 23312576 )
2013
94
An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism. ( 23975092 )
2013
95
Dermoscopy of melanocytic lesions in patients affected by oculocutaneous albinism: a case series. ( 23816758 )
2013
96
Oculocutaneous albinism and skin cancer risk. ( 22757611 )
2013
97
Microperimetric biofeedback in a patient with oculocutaneous albinism. ( 24093197 )
2013
98
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
99
Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism. ( 23971281 )
2013
100
Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism. ( 23901257 )
2013
101
Molecular analysis of Korean patients with oculocutaneous albinism. ( 22042571 )
2012
102
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. ( 23242301 )
2012
103
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. ( 21985232 )
2012
104
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. ( 22734612 )
2012
105
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. ( 22133989 )
2012
106
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. ( 22294196 )
2012
107
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report. ( 22548044 )
2012
108
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. ( 22987308 )
2012
109
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. ( 22490798 )
2012
110
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. ( 22088535 )
2011
111
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. ( 21287499 )
2011
112
Granulomatous colitis in oculocutaneous albinism. ( 19833565 )
2011
113
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. ( 20861851 )
2011
114
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. ( 21996312 )
2011
115
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. ( 21677667 )
2011
116
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. ( 21739261 )
2011
117
Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. ( 22031648 )
2011
118
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation. ( 21614985 )
2011
119
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. ( 21968107 )
2011
120
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. ( 21458243 )
2011
121
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. ( 22097729 )
2011
122
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. ( 21968110 )
2011
123
Visual acuity and nystagmus following strabismus surgery in patients with oculocutaneous albinism. ( 21261179 )
2010
124
Oculocutaneous albinism associated with multiple malformations and psychomotor retardation. ( 20537085 )
2010
125
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. ( 20447099 )
2010
126
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. ( 19865097 )
2010
127
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family. ( 23112997 )
2010
128
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. ( 20019752 )
2010
129
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. ( 20426782 )
2010
130
Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports. ( 21509091 )
2010
131
Two cases of burns in children from French Guinea with oculocutaneous albinism. ( 21991215 )
2010
132
Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism. ( 19231645 )
2009
133
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. ( 19397757 )
2009
134
Malignant amelanotic melanoma developing from an intradermal naevus in a patient with oculocutaneous albinism. ( 19486065 )
2009
135
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. ( 19610114 )
2009
136
Multiple inflamed nevi in a child with oculocutaneous albinism: what lessons can be learned? ( 19250424 )
2009
137
Oculocutaneous albinism in Suncus murinus: establishment of a strain and identification of its responsible gene. ( 19151509 )
2009
138
Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. ( 19626598 )
2009
139
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. ( 18821858 )
2008
140
Multifocal visual evoked potentials reveal normal optic nerve projections in human carriers of oculocutaneous albinism type 1a. ( 18296661 )
2008
141
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. ( 18245373 )
2008
142
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]. ( 18683130 )
2008
143
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. ( 18407468 )
2008
144
Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report. ( 18294379 )
2008
145
Oculocutaneous albinism type 1A: a case report. ( 19094851 )
2008
146
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ( 19006216 )
2008
147
Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect? ( 18202852 )
2008
148
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). ( 18036783 )
2008
149
Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. ( 18590551 )
2008
150
Oculocutaneous albinism accompanied by minor morphologic stigmata. ( 18551315 )
2008
151
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. ( 18986462 )
2008
152
Bilateral keratoconus with oculocutaneous albinism. ( 18797083 )
2008
153
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. ( 18463683 )
2008
154
Foveal thickness and macular volume in patients with oculocutaneous albinism. ( 18046229 )
2007
155
What's your diagnosis? Sporadic oculocutaneous albinism associated with Chen's iridal rings (secondary to equatorial lenticular shadows). ( 17694824 )
2007
156
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. ( 17355913 )
2007
157
Pulmonary aneurysms and intracardiac thrombi due to BehAset's disease in an African-American adolescent with oculocutaneous albinism. ( 17047893 )
2007
158
Oculocutaneous albinism. ( 17980020 )
2007
159
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. ( 17931990 )
2007
160
GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. ( 17353214 )
2007
161
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. ( 17960121 )
2007
162
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. ( 17385796 )
2007
163
Oculocutaneous albinism in a rural community of South Africa: a population genetic study. ( 17620156 )
2007
164
SLC45A2 variations in Indian oculocutaneous albinism patients. ( 17768386 )
2007
165
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. ( 17767372 )
2007
166
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ( 17516931 )
2007
167
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism. ( 16517127 )
2006
168
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? ( 16868655 )
2006
169
Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. ( 16717457 )
2006
170
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. ( 16704458 )
2006
171
[A new form of Oculocutaneous albinism, OCA4]. ( 16963427 )
2006
172
Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. ( 16199032 )
2006
173
Topographical retinal function in oculocutaneous albinism. ( 16765699 )
2006
174
[Prenatal gene diagnosis of oculocutaneous albinism type I]. ( 16767664 )
2006
175
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. ( 17041891 )
2006
176
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. ( 16417222 )
2006
177
Two novel mutations detected in Japanese patients with oculocutaneous albinism. ( 17008060 )
2006
178
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. ( 17090889 )
2006
179
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. ( 16965274 )
2006
180
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. ( 16570240 )
2006
181
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. ( 15565285 )
2005
182
Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. ( 16170149 )
2005
183
Oculocutaneous albinism in southern Africa: population structure, health and genetic care. ( 16096213 )
2005
184
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 15656822 )
2005
185
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. ( 15942220 )
2005
186
Choroidal amelanotic melanoma in a patient with oculocutaneous albinism. ( 16391642 )
2005
187
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 16225631 )
2005
188
Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. ( 16162178 )
2005
189
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). ( 16098056 )
2005
190
P gene mutations associated with oculocutaneous albinism type II (OCA2). ( 15712365 )
2005
191
[Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. ( 16555521 )
2005
192
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. ( 15937636 )
2005
193
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. ( 15996218 )
2005
194
A Case of oculocutaneous albinism in a Maltese. ( 16294003 )
2005
195
Oculocutaneous albinism and spurious pulse oximetry. ( 14742411 )
2004
196
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. ( 15381243 )
2004
197
A case of familial trichomegaly in association with oculocutaneous albinism type 1. ( 14752500 )
2004
198
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ( 14961451 )
2004
199
Coinheritance of two rare genodermatoses (Papillon-LefA"vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. ( 15606524 )
2004
200
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. ( 15173252 )
2004
201
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. ( 15635296 )
2004
202
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. ( 14722913 )
2004
203
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. ( 12469324 )
2003
204
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). ( 12876664 )
2003
205
Oculocutaneous albinism type 1: the last 100 years. ( 12753405 )
2003
206
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. ( 12749060 )
2003
207
Amelanotic melanoma in a child with oculocutaneous albinism. ( 12825234 )
2003
208
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. ( 12713581 )
2003
209
Oculocutaneous albinism. ( 12702061 )
2003
210
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). ( 12727022 )
2003
211
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. ( 13680365 )
2003
212
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. ( 12829739 )
2003
213
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). ( 11858948 )
2002
214
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. ( 12128226 )
2002
215
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. ( 12028586 )
2002
216
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. ( 11860983 )
2002
217
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. ( 11641241 )
2001
218
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. ( 11284711 )
2001
219
Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. ( 11260608 )
2001
220
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ( 11295837 )
2001
221
Diagnostic and therapeutic challenges. A 50-year-old woman with oculocutaneous albinism (OCA) and Type II diabetes mellitus (DM) reported bilateral progressive visual loss, especially during the last month. ( 11508884 )
2001
222
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ( 11310796 )
2001
223
Tyrp1 and oculocutaneous albinism type 3. ( 11775055 )
2001
224
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. ( 11179026 )
2001
225
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. ( 11384158 )
2001
226
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. ( 11574907 )
2001
227
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. ( 11134238 )
2001
228
Malignant melanoma in a patient with oculocutaneous albinism. ( 11003720 )
2000
229
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-saharan africa; robyn kerr, gwynneth stevens, prashiela manga, sarah salm, premila john, tabitha haw, and michele ramsay; (Article was originally published in human mutation 15:166-172, 2000) ( 10874310 )
2000
230
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. ( 11041370 )
2000
231
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. ( 10649493 )
2000
232
Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome? ( 11045591 )
2000
233
Electron microscopic DOPA reaction test for oculocutaneous albinism. ( 10929771 )
2000
234
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. ( 11041207 )
2000
235
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
236
Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 10749270 )
2000
237
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. ( 10571953 )
1999
238
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. ( 10559577 )
1999
239
Bilateral abortive cryptophthalmos associated with oculocutaneous albinism. ( 10321549 )
1999
240
Oculocutaneous albinism. ( 10332009 )
1999
241
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)]. ( 10037574 )
1999
242
Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. ( 10441617 )
1999
243
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. ( 10454293 )
1999
244
Metastatic melanoma of the nasal cavity in a patient with oculocutaneous albinism. ( 9890545 )
1998
245
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. ( 9568405 )
1998
246
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 9562579 )
1998
247
Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. ( 9879192 )
1998
248
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ( 10671066 )
1998
249
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). ( 10671067 )
1998
250
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). ( 9259202 )
1997
251
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. ( 9099845 )
1997
252
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). ( 9259203 )
1997
253
DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). ( 9560949 )
1997
254
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. ( 9163730 )
1997
255
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. ( 9321758 )
1997
256
Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. ( 9170165 )
1997
257
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. ( 9345097 )
1997
258
Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 9059668 )
1997
259
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. ( 9341887 )
1997
260
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. ( 8953413 )
1996
261
Histology of fetal eyes with oculocutaneous albinism. ( 8619776 )
1996
262
Distribution of oculocutaneous albinism in Zimbabwe. ( 8863154 )
1996
263
Diagnosis of oculocutaneous albinism with molecular analysis. ( 8644824 )
1996
264
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". ( 8651291 )
1996
265
Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism. ( 8996965 )
1996
266
Oculocutaneous albinism. ( 8804841 )
1996
267
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. ( 8618053 )
1996
268
Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism? ( 9479530 )
1996
269
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. ( 7887411 )
1995
270
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). ( 7617575 )
1995
271
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). ( 7762554 )
1995
272
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. ( 8592327 )
1995
273
Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. ( 7636828 )
1995
274
Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses. ( 7487137 )
1995
275
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. ( 8302318 )
1994
276
Molecular basis of oculocutaneous albinism. ( 7963676 )
1994
277
Molecular genetics of oculocutaneous albinism. ( 7849740 )
1994
278
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. ( 7937580 )
1994
279
Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism. ( 8051921 )
1994
280
Ophthalmic features of minimal pigment oculocutaneous albinism. ( 8190479 )
1994
281
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. ( 8198130 )
1994
282
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. ( 7920637 )
1994
283
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. ( 8025067 )
1994
284
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. ( 7991586 )
1994
285
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? ( 8042664 )
1994
286
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. ( 8128955 )
1994
287
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. ( 8027570 )
1994
288
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). ( 7886000 )
1994
289
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). ( 7874125 )
1994
290
Molecular genetics of oculocutaneous albinism. ( 8217557 )
1993
291
A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. ( 8364542 )
1993
292
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). ( 7902671 )
1993
293
Oculocutaneous Albinism Type 2 ( 20301410 )
1993
294
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism. ( 8428754 )
1993
295
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. ( 8477259 )
1993
296
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. ( 8491890 )
1993
297
Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism. ( 7688401 )
1993
298
Oculocutaneous Albinism Type 1 ( 20301345 )
1993
299
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. ( 8421497 )
1993
300
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. ( 8434585 )
1993
301
Oculocutaneous Albinism Type 4 ( 20301683 )
1993
302
Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. ( 1409445 )
1992
303
[Oculocutaneous albinism]. ( 1416662 )
1992
304
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. ( 1642278 )
1992
305
Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. ( 1409426 )
1992
306
Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism. ( 1403762 )
1992
307
Malignant melanoma occurring in a case of oculocutaneous albinism. ( 1634204 )
1992
308
Mutations of the tyrosinase gene in oculocutaneous albinism. ( 1292010 )
1992
309
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 1355848 )
1992
310
Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. ( 1432506 )
1992
311
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. ( 1409411 )
1992
312
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. ( 1415228 )
1992
313
Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. ( 1498098 )
1992
314
Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. ( 1410836 )
1992
315
Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism. ( 1292009 )
1992
316
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. ( 1487241 )
1992
317
Malignant melanoma in a child with oculocutaneous albinism. ( 1405654 )
1992
318
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ( 1899321 )
1991
319
Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. ( 1903591 )
1991
320
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. ( 1676041 )
1991
321
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ( 1832718 )
1991
322
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. ( 1711223 )
1991
323
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. ( 1943686 )
1991
324
Duane syndrome associated with oculocutaneous albinism. ( 2019956 )
1991
325
Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. ( 2059060 )
1991
326
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. ( 1905879 )
1991
327
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. ( 1900309 )
1991
328
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. ( 1900307 )
1991
329
In quest of the tyrosinase-positive oculocutaneous albinism gene. ( 1982896 )
1990
330
A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature. ( 2280979 )
1990
331
Oculocutaneous albinism in Cameroon. A 15-year follow-up study. ( 2096353 )
1990
332
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. ( 2342539 )
1990
333
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. ( 1970634 )
1990
334
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. ( 2120217 )
1990
335
Oculocutaneous albinism and schizophrenia-like psychosis. ( 2915216 )
1989
336
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. ( 2517365 )
1989
337
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. ( 2511845 )
1989
338
Electroretinographic findings in human oculocutaneous albinism. ( 2516301 )
1989
339
Malignant melanoma in oculocutaneous albinism. ( 2684028 )
1989
340
Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. ( 2732995 )
1989
341
Oculocutaneous albinism associated with congenital glaucoma. ( 3405593 )
1988
342
Developmental glaucoma in oculocutaneous albinism. ( 3405588 )
1988
343
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. ( 3148727 )
1988
344
Mechanisms of hypopigmentation in human oculocutaneous albinism. ( 3285349 )
1988
345
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. ( 3130302 )
1988
346
Minimal pigment: a new type of oculocutaneous albinism. ( 3081286 )
1986
347
Oculocutaneous albinism and schizophrenia. ( 3730462 )
1986
348
Segregation analysis of brown oculocutaneous albinism. ( 3742854 )
1986
349
Zinc and copper metabolism in oculocutaneous albinism in the Caucasian. ( 3133536 )
1986
350
Histopathologic evaluation of melanocytic nervi in oculocutaneous albinism. ( 2484848 )
1985
351
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. ( 3918447 )
1985
352
Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism. ( 2408424 )
1985
353
Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. ( 3935994 )
1985
354
Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. ( 6499256 )
1984
355
Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. ( 6490997 )
1984
356
Visual acuity development in tyrosinase negative oculocutaneous albinism. ( 6425027 )
1984
357
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. ( 6827132 )
1983
358
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. ( 6616879 )
1983
359
Copper metabolism study in oculocutaneous albinism. ( 6656620 )
1983
360
Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. ( 6340629 )
1983
361
Malignant melanoma with oculocutaneous albinism. ( 7142477 )
1982
362
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). ( 7065089 )
1982
363
Allelism in human oculocutaneous albinism. ( 6787918 )
1981
364
Oculocutaneous albinism with Axenfeld's anomaly. ( 6789680 )
1981
365
Oculocutaneous albinism and corneal mesodermal dysgenesis. ( 7294125 )
1981
366
Lentigo maligna in a woman with oculocutaneous albinism. ( 7247429 )
1981
367
Oculocutaneous albinism associated with corneal mesodermal dysgenesis. ( 7211991 )
1981
368
Can oculocutaneous albinism be diagnosed prenatally? ( 7346821 )
1981
369
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome. ( 439847 )
1979
370
Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. ( 493902 )
1979
371
Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. ( 115122 )
1978
372
Oculocutaneous albinism associated with motor neuron disease. ( 632111 )
1978
373
Oculocutaneous albinism and mental disorder. A report of two autistic boys. ( 413782 )
1978
374
Trysinase positive oculocutaneous albinism in the goldfish, Carassius auratus l., and ultrastructural and biochemical study of the eye. ( 411572 )
1977
375
Oculocutaneous albinism associated with Apert's syndrome. ( 596398 )
1977
376
Oculocutaneous albinism and multiple pigmented naevi. ( 414774 )
1977
377
Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. ( 15451 )
1977
378
Hairbulb tyrosinase activity in oculocutaneous albinism. ( 822352 )
1976
379
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. ( 940919 )
1976
380
Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. ( 4351103 )
1973
381
Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. ( 4624656 )
1972
382
Investigation of a case of oculocutaneous albinism. ( 5006146 )
1971
383
Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. ( 5173133 )
1971
384
Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. ( 4983623 )
1970

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6
(showing 212, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh38 Chromosome 15, 27985101: 27985101
3 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
4 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
5 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
6 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
7 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
8 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
9 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic rs104894317 GRCh37 Chromosome 11, 89018092: 89018092
10 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic rs104894317 GRCh38 Chromosome 11, 89284924: 89284924
11 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
12 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
13 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh37 Chromosome 15, 28235725: 28235725
14 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh38 Chromosome 15, 27990579: 27990579
15 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh37 Chromosome 15, 28231793: 28231793
16 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh38 Chromosome 15, 27986647: 27986647
17 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh37 Chromosome 15, 28202766: 28202766
18 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh38 Chromosome 15, 27957620: 27957620
19 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh37 Chromosome 9, 12694274: 12694274
20 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh38 Chromosome 9, 12694274: 12694274
21 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh37 Chromosome 15, 28096538: 28096538
22 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh38 Chromosome 15, 27851392: 27851392
23 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh37 Chromosome 15, 28267700: 28267700
24 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh38 Chromosome 15, 28022554: 28022554
25 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Uncertain significance rs371152353 GRCh37 Chromosome 5, 33947489: 33947489
26 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Uncertain significance rs371152353 GRCh38 Chromosome 5, 33947384: 33947384
27 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Likely benign rs34509359 GRCh37 Chromosome 9, 12694255: 12694255
28 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Likely benign rs34509359 GRCh38 Chromosome 9, 12694255: 12694255
29 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Likely benign rs35866166 GRCh38 Chromosome 9, 12698471: 12698471
30 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Likely benign rs35866166 GRCh37 Chromosome 9, 12698471: 12698471
31 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Uncertain significance rs147268542 GRCh37 Chromosome 9, 12698664: 12698664
32 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Uncertain significance rs147268542 GRCh38 Chromosome 9, 12698664: 12698664
33 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Uncertain significance rs144041081 GRCh38 Chromosome 9, 12704517: 12704517
34 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Uncertain significance rs144041081 GRCh37 Chromosome 9, 12704517: 12704517
35 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh37 Chromosome 15, 28090173: 28090173
36 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh38 Chromosome 15, 27845027: 27845027
37 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Likely benign rs1800416 GRCh38 Chromosome 15, 27926148: 27926148
38 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Likely benign rs1800416 GRCh37 Chromosome 15, 28171294: 28171294
39 OCA2 NM_000275.2(OCA2): c.1844A> G (p.His615Arg) single nucleotide variant Benign rs1800414 GRCh37 Chromosome 15, 28197037: 28197037
40 OCA2 NM_000275.2(OCA2): c.1844A> G (p.His615Arg) single nucleotide variant Benign rs1800414 GRCh38 Chromosome 15, 27951891: 27951891
41 OCA2 NM_000275.2(OCA2): c.1551C> T (p.Cys517=) single nucleotide variant Benign rs1800411 GRCh38 Chromosome 15, 27966775: 27966775
42 OCA2 NM_000275.2(OCA2): c.1551C> T (p.Cys517=) single nucleotide variant Benign rs1800411 GRCh37 Chromosome 15, 28211921: 28211921
43 OCA2 NM_000275.2(OCA2): c.1365-15C> T single nucleotide variant Benign rs12910433 GRCh37 Chromosome 15, 28228644: 28228644
44 OCA2 NM_000275.2(OCA2): c.1365-15C> T single nucleotide variant Benign rs12910433 GRCh38 Chromosome 15, 27983498: 27983498
45 OCA2 NM_000275.2(OCA2): c.1065G> A (p.Ala355=) single nucleotide variant Benign rs1800404 GRCh38 Chromosome 15, 27990627: 27990627
46 OCA2 NM_000275.2(OCA2): c.1065G> A (p.Ala355=) single nucleotide variant Benign rs1800404 GRCh37 Chromosome 15, 28235773: 28235773
47 OCA2 NM_000275.2(OCA2): c.144G> A (p.Ser48=) single nucleotide variant Uncertain significance rs374819923 GRCh38 Chromosome 15, 28081731: 28081731
48 OCA2 NM_000275.2(OCA2): c.144G> A (p.Ser48=) single nucleotide variant Uncertain significance rs374819923 GRCh37 Chromosome 15, 28326877: 28326877
49 OCA2 NM_000275.2(OCA2): c.722C> G (p.Pro241Arg) single nucleotide variant Benign/Likely benign rs2305253 GRCh37 Chromosome 15, 28263628: 28263628
50 OCA2 NM_000275.2(OCA2): c.722C> G (p.Pro241Arg) single nucleotide variant Benign/Likely benign rs2305253 GRCh38 Chromosome 15, 28018482: 28018482
51 SLC45A2 NM_016180.4(SLC45A2): c.1533G> A (p.Ala511=) single nucleotide variant Uncertain significance rs373174326 GRCh37 Chromosome 5, 33944813: 33944813
52 SLC45A2 NM_016180.4(SLC45A2): c.1533G> A (p.Ala511=) single nucleotide variant Uncertain significance rs373174326 GRCh38 Chromosome 5, 33944708: 33944708
53 SLC45A2 NM_016180.4(SLC45A2): c.232C> A (p.Pro78Thr) single nucleotide variant Uncertain significance rs886060520 GRCh37 Chromosome 5, 33984457: 33984457
54 SLC45A2 NM_016180.4(SLC45A2): c.232C> A (p.Pro78Thr) single nucleotide variant Uncertain significance rs886060520 GRCh38 Chromosome 5, 33984352: 33984352
55 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh38 Chromosome 5, 33988023: 33988023
56 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh37 Chromosome 5, 33988128: 33988128
57 SLC45A2 NM_016180.4(SLC45A2): c.1090G> A (p.Glu364Lys) single nucleotide variant Uncertain significance rs201140684 GRCh37 Chromosome 5, 33951725: 33951725
58 SLC45A2 NM_016180.4(SLC45A2): c.1090G> A (p.Glu364Lys) single nucleotide variant Uncertain significance rs201140684 GRCh38 Chromosome 5, 33951620: 33951620
59 SLC45A2 NM_016180.4(SLC45A2): c.1032+9C> T single nucleotide variant Uncertain significance rs113928135 GRCh37 Chromosome 5, 33954457: 33954457
60 SLC45A2 NM_016180.4(SLC45A2): c.1032+9C> T single nucleotide variant Uncertain significance rs113928135 GRCh38 Chromosome 5, 33954352: 33954352
61 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh38 Chromosome 5, 33988111: 33988111
62 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh37 Chromosome 5, 33988216: 33988216
63 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh38 Chromosome 5, 33988476: 33988476
64 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh37 Chromosome 5, 33988581: 33988581
65 SLC45A2 NM_016180.4(SLC45A2): c.372T> A (p.Ala124=) single nucleotide variant Uncertain significance rs886060519 GRCh37 Chromosome 5, 33984317: 33984317
66 SLC45A2 NM_016180.4(SLC45A2): c.372T> A (p.Ala124=) single nucleotide variant Uncertain significance rs886060519 GRCh38 Chromosome 5, 33984212: 33984212
67 SLC45A2 NM_016180.4(SLC45A2): c.*29C> G single nucleotide variant Uncertain significance rs886060518 GRCh37 Chromosome 5, 33944724: 33944724
68 SLC45A2 NM_016180.4(SLC45A2): c.*29C> G single nucleotide variant Uncertain significance rs886060518 GRCh38 Chromosome 5, 33944619: 33944619
69 SLC45A2 NM_016180.4(SLC45A2): c.1351C> T (p.Arg451Cys) single nucleotide variant Uncertain significance rs142175557 GRCh37 Chromosome 5, 33947285: 33947285
70 SLC45A2 NM_016180.4(SLC45A2): c.1351C> T (p.Arg451Cys) single nucleotide variant Uncertain significance rs142175557 GRCh38 Chromosome 5, 33947180: 33947180
71 SLC45A2 NM_016180.4(SLC45A2): c.1156+7C> T single nucleotide variant Uncertain significance rs767910207 GRCh37 Chromosome 5, 33951652: 33951652
72 SLC45A2 NM_016180.4(SLC45A2): c.1156+7C> T single nucleotide variant Uncertain significance rs767910207 GRCh38 Chromosome 5, 33951547: 33951547
73 SLC45A2 NM_016180.4(SLC45A2): c.1089C> T (p.Tyr363=) single nucleotide variant Uncertain significance rs148156477 GRCh37 Chromosome 5, 33951726: 33951726
74 SLC45A2 NM_016180.4(SLC45A2): c.1089C> T (p.Tyr363=) single nucleotide variant Uncertain significance rs148156477 GRCh38 Chromosome 5, 33951621: 33951621
75 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh37 Chromosome 5, 33951738: 33951739
76 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh38 Chromosome 5, 33951633: 33951634
77 SLC45A2 NM_016180.4(SLC45A2): c.627A> G (p.Arg209=) single nucleotide variant Uncertain significance rs755956613 GRCh37 Chromosome 5, 33964057: 33964057
78 SLC45A2 NM_016180.4(SLC45A2): c.627A> G (p.Arg209=) single nucleotide variant Uncertain significance rs755956613 GRCh38 Chromosome 5, 33963952: 33963952
79 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1961G> A single nucleotide variant Likely benign rs113746028 GRCh37 Chromosome 5, 33987237: 33987237
80 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1961G> A single nucleotide variant Likely benign rs113746028 GRCh38 Chromosome 5, 33987132: 33987132
81 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1144A> G single nucleotide variant Likely benign rs840380 GRCh38 Chromosome 5, 33987949: 33987949
82 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1144A> G single nucleotide variant Likely benign rs840380 GRCh37 Chromosome 5, 33988054: 33988054
83 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*963C> T single nucleotide variant Likely benign rs6898962 GRCh38 Chromosome 5, 33988130: 33988130
84 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*963C> T single nucleotide variant Likely benign rs6898962 GRCh37 Chromosome 5, 33988235: 33988235
85 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*663G> A single nucleotide variant Benign/Likely benign rs15612 GRCh38 Chromosome 5, 33988430: 33988430
86 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*663G> A single nucleotide variant Benign/Likely benign rs15612 GRCh37 Chromosome 5, 33988535: 33988535
87 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*227T> G single nucleotide variant Benign/Likely benign rs6863560 GRCh38 Chromosome 5, 33988866: 33988866
88 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*227T> G single nucleotide variant Benign/Likely benign rs6863560 GRCh37 Chromosome 5, 33988971: 33988971
89 TYRP1 NM_000550.2(TYRP1): c.-119G> T single nucleotide variant Uncertain significance rs147861369 GRCh37 Chromosome 9, 12693445: 12693445
90 TYRP1 NM_000550.2(TYRP1): c.-119G> T single nucleotide variant Uncertain significance rs147861369 GRCh38 Chromosome 9, 12693445: 12693445
91 TYRP1 NM_000550.2(TYRP1): c.-69G> T single nucleotide variant Uncertain significance rs181350173 GRCh37 Chromosome 9, 12693928: 12693928
92 TYRP1 NM_000550.2(TYRP1): c.-69G> T single nucleotide variant Uncertain significance rs181350173 GRCh38 Chromosome 9, 12693928: 12693928
93 TYRP1 NM_000550.2(TYRP1): c.527C> T (p.Thr176Met) single nucleotide variant Uncertain significance rs886063413 GRCh37 Chromosome 9, 12695656: 12695656
94 TYRP1 NM_000550.2(TYRP1): c.527C> T (p.Thr176Met) single nucleotide variant Uncertain significance rs886063413 GRCh38 Chromosome 9, 12695656: 12695656
95 TYRP1 NM_000550.2(TYRP1): c.1560A> G (p.Gln520=) single nucleotide variant Uncertain significance rs773136421 GRCh37 Chromosome 9, 12709128: 12709128
96 TYRP1 NM_000550.2(TYRP1): c.1560A> G (p.Gln520=) single nucleotide variant Uncertain significance rs773136421 GRCh38 Chromosome 9, 12709128: 12709128
97 TYRP1 NM_000550.2(TYRP1): c.-161G> T single nucleotide variant Likely benign rs7867043 GRCh37 Chromosome 9, 12693403: 12693403
98 TYRP1 NM_000550.2(TYRP1): c.-161G> T single nucleotide variant Likely benign rs7867043 GRCh38 Chromosome 9, 12693403: 12693403
99 TYRP1 NM_000550.2(TYRP1): c.208G> A (p.Ala70Thr) single nucleotide variant Uncertain significance rs61752864 GRCh37 Chromosome 9, 12694204: 12694204
100 TYRP1 NM_000550.2(TYRP1): c.208G> A (p.Ala70Thr) single nucleotide variant Uncertain significance rs61752864 GRCh38 Chromosome 9, 12694204: 12694204
101 TYRP1 NM_000550.2(TYRP1): c.308G> A (p.Gly103Asp) single nucleotide variant Uncertain significance rs761214982 GRCh37 Chromosome 9, 12694304: 12694304
102 TYRP1 NM_000550.2(TYRP1): c.308G> A (p.Gly103Asp) single nucleotide variant Uncertain significance rs761214982 GRCh38 Chromosome 9, 12694304: 12694304
103 TYRP1 NM_000550.2(TYRP1): c.*298_*301delAAGT deletion Benign rs71329877 GRCh38 Chromosome 9, 12709480: 12709483
104 TYRP1 NM_000550.2(TYRP1): c.*298_*301delAAGT deletion Benign rs71329877 GRCh37 Chromosome 9, 12709480: 12709483
105 TYRP1 NM_000550.2(TYRP1): c.*319_*320dupTT duplication Uncertain significance rs886063414 GRCh38 Chromosome 9, 12709501: 12709502
106 TYRP1 NM_000550.2(TYRP1): c.*319_*320dupTT duplication Uncertain significance rs886063414 GRCh37 Chromosome 9, 12709501: 12709502
107 TYRP1 NM_000550.2(TYRP1): c.*404A> T single nucleotide variant Benign rs2762464 GRCh38 Chromosome 9, 12709586: 12709586
108 TYRP1 NM_000550.2(TYRP1): c.*404A> T single nucleotide variant Benign rs2762464 GRCh37 Chromosome 9, 12709586: 12709586
109 TYRP1 NM_000550.2(TYRP1): c.*591G> T single nucleotide variant Uncertain significance rs886063416 GRCh38 Chromosome 9, 12709773: 12709773
110 TYRP1 NM_000550.2(TYRP1): c.*591G> T single nucleotide variant Uncertain significance rs886063416 GRCh37 Chromosome 9, 12709773: 12709773
111 TYRP1 NM_000550.2(TYRP1): c.*955dupT duplication Uncertain significance rs886063417 GRCh38 Chromosome 9, 12710137: 12710137
112 TYRP1 NM_000550.2(TYRP1): c.*955dupT duplication Uncertain significance rs886063417 GRCh37 Chromosome 9, 12710137: 12710137
113 TYR NM_000372.4(TYR): c.-37G> A single nucleotide variant Uncertain significance rs755069000 GRCh38 Chromosome 11, 89177917: 89177917
114 TYR NM_000372.4(TYR): c.-37G> A single nucleotide variant Uncertain significance rs755069000 GRCh37 Chromosome 11, 88911085: 88911085
115 TYR NM_000372.4(TYR): c.1270T> A (p.Ser424Thr) single nucleotide variant Uncertain significance rs748618759 GRCh38 Chromosome 11, 89284858: 89284858
116 TYR NM_000372.4(TYR): c.1270T> A (p.Ser424Thr) single nucleotide variant Uncertain significance rs748618759 GRCh37 Chromosome 11, 89018026: 89018026
117 TYRP1 NM_000550.2(TYRP1): c.-70C> T single nucleotide variant Uncertain significance rs766836831 GRCh37 Chromosome 9, 12693927: 12693927
118 TYRP1 NM_000550.2(TYRP1): c.-70C> T single nucleotide variant Uncertain significance rs766836831 GRCh38 Chromosome 9, 12693927: 12693927
119 TYRP1 NM_000550.2(TYRP1): c.-6A> G single nucleotide variant Uncertain significance rs200838609 GRCh37 Chromosome 9, 12693991: 12693991
120 TYRP1 NM_000550.2(TYRP1): c.-6A> G single nucleotide variant Uncertain significance rs200838609 GRCh38 Chromosome 9, 12693991: 12693991
121 TYRP1 NM_000550.2(TYRP1): c.70G> A (p.Ala24Thr) single nucleotide variant Uncertain significance rs61758405 GRCh37 Chromosome 9, 12694066: 12694066
122 TYRP1 NM_000550.2(TYRP1): c.70G> A (p.Ala24Thr) single nucleotide variant Uncertain significance rs61758405 GRCh38 Chromosome 9, 12694066: 12694066
123 TYRP1 NM_000550.2(TYRP1): c.917C> G (p.Thr306Ser) single nucleotide variant Uncertain significance rs773285733 GRCh37 Chromosome 9, 12702274: 12702274
124 TYRP1 NM_000550.2(TYRP1): c.917C> G (p.Thr306Ser) single nucleotide variant Uncertain significance rs773285733 GRCh38 Chromosome 9, 12702274: 12702274
125 TYRP1 NM_000550.2(TYRP1): c.*259T> C single nucleotide variant Uncertain significance rs76349729 GRCh37 Chromosome 9, 12709441: 12709441
126 TYRP1 NM_000550.2(TYRP1): c.*259T> C single nucleotide variant Uncertain significance rs76349729 GRCh38 Chromosome 9, 12709441: 12709441
127 TYRP1 NM_000550.2(TYRP1): c.*472_*475delATTA deletion Benign rs71329878 GRCh38 Chromosome 9, 12709654: 12709657
128 TYRP1 NM_000550.2(TYRP1): c.*472_*475delATTA deletion Benign rs71329878 GRCh37 Chromosome 9, 12709654: 12709657
129 TYRP1 NM_000550.2(TYRP1): c.*509C> A single nucleotide variant Uncertain significance rs74941076 GRCh37 Chromosome 9, 12709691: 12709691
130 TYRP1 NM_000550.2(TYRP1): c.*509C> A single nucleotide variant Uncertain significance rs74941076 GRCh38 Chromosome 9, 12709691: 12709691
131 TYRP1 NM_000550.2(TYRP1): c.*568T> C single nucleotide variant Uncertain significance rs142323339 GRCh38 Chromosome 9, 12709750: 12709750
132 TYRP1 NM_000550.2(TYRP1): c.*568T> C single nucleotide variant Uncertain significance rs142323339 GRCh37 Chromosome 9, 12709750: 12709750
133 TYRP1 NM_000550.2(TYRP1): c.*908T> C single nucleotide variant Benign rs1063380 GRCh38 Chromosome 9, 12710090: 12710090
134 TYRP1 NM_000550.2(TYRP1): c.*908T> C single nucleotide variant Benign rs1063380 GRCh37 Chromosome 9, 12710090: 12710090
135 TYRP1 NM_000550.2(TYRP1): c.-167G> A single nucleotide variant Uncertain significance rs181711630 GRCh37 Chromosome 9, 12693397: 12693397
136 TYRP1 NM_000550.2(TYRP1): c.-167G> A single nucleotide variant Uncertain significance rs181711630 GRCh38 Chromosome 9, 12693397: 12693397
137 TYRP1 NM_000550.2(TYRP1): c.-15C> G single nucleotide variant Uncertain significance rs200678533 GRCh37 Chromosome 9, 12693982: 12693982
138 TYRP1 NM_000550.2(TYRP1): c.-15C> G single nucleotide variant Uncertain significance rs200678533 GRCh38 Chromosome 9, 12693982: 12693982
139 TYRP1 NM_000550.2(TYRP1): c.1029C> T (p.Asp343=) single nucleotide variant Uncertain significance rs145061390 GRCh37 Chromosome 9, 12702386: 12702386
140 TYRP1 NM_000550.2(TYRP1): c.1029C> T (p.Asp343=) single nucleotide variant Uncertain significance rs145061390 GRCh38 Chromosome 9, 12702386: 12702386
141 TYRP1 NM_000550.2(TYRP1): c.1082-8G> A single nucleotide variant Uncertain significance rs79992094 GRCh37 Chromosome 9, 12704518: 12704518
142 TYRP1 NM_000550.2(TYRP1): c.1082-8G> A single nucleotide variant Uncertain significance rs79992094 GRCh38 Chromosome 9, 12704518: 12704518
143 TYRP1 NM_000550.2(TYRP1): c.1279T> C (p.Leu427=) single nucleotide variant Uncertain significance rs148782717 GRCh37 Chromosome 9, 12708014: 12708014
144 TYRP1 NM_000550.2(TYRP1): c.1279T> C (p.Leu427=) single nucleotide variant Uncertain significance rs148782717 GRCh38 Chromosome 9, 12708014: 12708014
145 TYRP1 NM_000550.2(TYRP1): c.*59A> C single nucleotide variant Uncertain significance rs140364108 GRCh37 Chromosome 9, 12709241: 12709241
146 TYRP1 NM_000550.2(TYRP1): c.*59A> C single nucleotide variant Uncertain significance rs140364108 GRCh38 Chromosome 9, 12709241: 12709241
147 TYRP1 NM_000550.2(TYRP1): c.*123C> A single nucleotide variant Benign rs683 GRCh37 Chromosome 9, 12709305: 12709305
148 TYRP1 NM_000550.2(TYRP1): c.*123C> A single nucleotide variant Benign rs683 GRCh38 Chromosome 9, 12709305: 12709305
149 TYRP1 NM_000550.2(TYRP1): c.*458A> G single nucleotide variant Uncertain significance rs549032453 GRCh38 Chromosome 9, 12709640: 12709640
150 TYRP1 NM_000550.2(TYRP1): c.*458A> G single nucleotide variant Uncertain significance rs549032453 GRCh37 Chromosome 9, 12709640: 12709640
151 TYRP1 NM_000550.2(TYRP1): c.*573T> G single nucleotide variant Uncertain significance rs886063415 GRCh38 Chromosome 9, 12709755: 12709755
152 TYRP1 NM_000550.2(TYRP1): c.*573T> G single nucleotide variant Uncertain significance rs886063415 GRCh37 Chromosome 9, 12709755: 12709755
153 TYRP1 NM_000550.2(TYRP1): c.*853A> C single nucleotide variant Benign rs910 GRCh38 Chromosome 9, 12710035: 12710035
154 TYRP1 NM_000550.2(TYRP1): c.*853A> C single nucleotide variant Benign rs910 GRCh37 Chromosome 9, 12710035: 12710035
155 OCA2 NM_000275.2(OCA2): c.*21G> A single nucleotide variant Uncertain significance rs369189827 GRCh37 Chromosome 15, 28000513: 28000513
156 OCA2 NM_000275.2(OCA2): c.*21G> A single nucleotide variant Uncertain significance rs369189827 GRCh38 Chromosome 15, 27755367: 27755367
157 OCA2 NM_000275.2(OCA2): c.2080G> A (p.Ala694Thr) single nucleotide variant Uncertain significance rs745803719 GRCh37 Chromosome 15, 28117068: 28117068
158 OCA2 NM_000275.2(OCA2): c.2080G> A (p.Ala694Thr) single nucleotide variant Uncertain significance rs745803719 GRCh38 Chromosome 15, 27871922: 27871922
159 OCA2 NM_000275.2(OCA2): c.588A> C (p.Leu196=) single nucleotide variant Uncertain significance rs374350218 GRCh38 Chromosome 15, 28022559: 28022559
160 OCA2 NM_000275.2(OCA2): c.588A> C (p.Leu196=) single nucleotide variant Uncertain significance rs374350218 GRCh37 Chromosome 15, 28267705: 28267705
161 OCA2 NM_000275.2(OCA2): c.48G> A (p.Ala16=) single nucleotide variant Uncertain significance rs371834997 GRCh38 Chromosome 15, 28081827: 28081827
162 OCA2 NM_000275.2(OCA2): c.48G> A (p.Ala16=) single nucleotide variant Uncertain significance rs371834997 GRCh37 Chromosome 15, 28326973: 28326973
163 TYR NM_000372.4(TYR): c.*230G> A single nucleotide variant Uncertain significance rs532489606 GRCh37 Chromosome 11, 89028764: 89028764
164 TYR NM_000372.4(TYR): c.*230G> A single nucleotide variant Uncertain significance rs532489606 GRCh38 Chromosome 11, 89295596: 89295596
165 TYR NM_000372.4(TYR): c.194T> C (p.Leu65Pro) single nucleotide variant Uncertain significance rs886048745 GRCh38 Chromosome 11, 89178147: 89178147
166 TYR NM_000372.4(TYR): c.194T> C (p.Leu65Pro) single nucleotide variant Uncertain significance rs886048745 GRCh37 Chromosome 11, 88911315: 88911315
167 TYR NM_000372.4(TYR): c.-41A> G single nucleotide variant Uncertain significance rs886048744 GRCh38 Chromosome 11, 89177913: 89177913
168 TYR NM_000372.4(TYR): c.-41A> G single nucleotide variant Uncertain significance rs886048744 GRCh37 Chromosome 11, 88911081: 88911081
169 TYR NM_000372.4(TYR): c.191C> T (p.Pro64Leu) single nucleotide variant Uncertain significance rs370798325 GRCh38 Chromosome 11, 89178144: 89178144
170 TYR NM_000372.4(TYR): c.191C> T (p.Pro64Leu) single nucleotide variant Uncertain significance rs370798325 GRCh37 Chromosome 11, 88911312: 88911312
171 OCA2 NM_000275.2(OCA2): c.*300T> C single nucleotide variant Uncertain significance rs776180839 GRCh38 Chromosome 15, 27755088: 27755088
172 OCA2 NM_000275.2(OCA2): c.*300T> C single nucleotide variant Uncertain significance rs776180839 GRCh37 Chromosome 15, 28000234: 28000234
173 OCA2 NM_000275.2(OCA2): c.2322C> T (p.Phe774=) single nucleotide variant Uncertain significance rs762388937 GRCh37 Chromosome 15, 28096544: 28096544
174 OCA2 NM_000275.2(OCA2): c.2322C> T (p.Phe774=) single nucleotide variant Uncertain significance rs762388937 GRCh38 Chromosome 15, 27851398: 27851398
175 OCA2 NM_000275.2(OCA2): c.2145C> G (p.Val715=) single nucleotide variant Uncertain significance rs779836224 GRCh37 Chromosome 15, 28116399: 28116399
176 OCA2 NM_000275.2(OCA2): c.2145C> G (p.Val715=) single nucleotide variant Uncertain significance rs779836224 GRCh38 Chromosome 15, 27871253: 27871253
177 OCA2 NM_000275.2(OCA2): c.1504-12_1504-9delGTTT deletion Uncertain significance rs886051022 GRCh37 Chromosome 15, 28211977: 28211980
178 OCA2 NM_000275.2(OCA2): c.1504-12_1504-9delGTTT deletion Uncertain significance rs886051022 GRCh38 Chromosome 15, 27966831: 27966834
179 OCA2 NM_000275.2(OCA2): c.666C> T (p.His222=) single nucleotide variant Uncertain significance rs751309779 GRCh38 Chromosome 15, 28018538: 28018538
180 OCA2 NM_000275.2(OCA2): c.666C> T (p.His222=) single nucleotide variant Uncertain significance rs751309779 GRCh37 Chromosome 15, 28263684: 28263684
181 OCA2 NM_000275.2(OCA2): c.648C> T (p.Ser216=) single nucleotide variant Uncertain significance rs886051026 GRCh38 Chromosome 15, 28018556: 28018556
182 OCA2 NM_000275.2(OCA2): c.648C> T (p.Ser216=) single nucleotide variant Uncertain significance rs886051026 GRCh37 Chromosome 15, 28263702: 28263702
183 OCA2 NM_000275.2(OCA2): c.594G> A (p.Pro198=) single nucleotide variant Uncertain significance rs762764142 GRCh38 Chromosome 15, 28022553: 28022553
184 OCA2 NM_000275.2(OCA2): c.594G> A (p.Pro198=) single nucleotide variant Uncertain significance rs762764142 GRCh37 Chromosome 15, 28267699: 28267699
185 OCA2 NM_000275.2(OCA2): c.85G> A (p.Ala29Thr) single nucleotide variant Uncertain significance rs759291231 GRCh38 Chromosome 15, 28081790: 28081790
186 OCA2 NM_000275.2(OCA2): c.85G> A (p.Ala29Thr) single nucleotide variant Uncertain significance rs759291231 GRCh37 Chromosome 15, 28326936: 28326936
187 OCA2 NM_000275.2(OCA2): c.*166C> T single nucleotide variant Uncertain significance rs182290687 GRCh38 Chromosome 15, 27755222: 27755222
188 OCA2 NM_000275.2(OCA2): c.*166C> T single nucleotide variant Uncertain significance rs182290687 GRCh37 Chromosome 15, 28000368: 28000368
189 OCA2 NM_000275.2(OCA2): c.1453G> A (p.Gly485Arg) single nucleotide variant Uncertain significance rs747214535 GRCh37 Chromosome 15, 28228541: 28228541
190 OCA2 NM_000275.2(OCA2): c.1453G> A (p.Gly485Arg) single nucleotide variant Uncertain significance rs747214535 GRCh38 Chromosome 15, 27983395: 27983395
191 OCA2 NM_000275.2(OCA2): c.1370G> T (p.Cys457Phe) single nucleotide variant Uncertain significance rs886051023 GRCh37 Chromosome 15, 28228624: 28228624
192 OCA2 NM_000275.2(OCA2): c.1370G> T (p.Cys457Phe) single nucleotide variant Uncertain significance rs886051023 GRCh38 Chromosome 15, 27983478: 27983478
193 OCA2 NM_000275.2(OCA2): c.1364+4C> T single nucleotide variant Uncertain significance rs1800409 GRCh37 Chromosome 15, 28230206: 28230206
194 OCA2 NM_000275.2(OCA2): c.1364+4C> T single nucleotide variant Uncertain significance rs1800409 GRCh38 Chromosome 15, 27985060: 27985060
195 OCA2 NM_000275.2(OCA2): c.1352C> A (p.Pro451His) single nucleotide variant Uncertain significance rs886051024 GRCh37 Chromosome 15, 28230222: 28230222
196 OCA2 NM_000275.2(OCA2): c.1352C> A (p.Pro451His) single nucleotide variant Uncertain significance rs886051024 GRCh38 Chromosome 15, 27985076: 27985076
197 OCA2 NM_000275.2(OCA2): c.216C> G (p.Leu72=) single nucleotide variant Uncertain significance rs766072141 GRCh38 Chromosome 15, 28081659: 28081659
198 OCA2 NM_000275.2(OCA2): c.216C> G (p.Leu72=) single nucleotide variant Uncertain significance rs766072141 GRCh37 Chromosome 15, 28326805: 28326805
199 OCA2 NM_000275.2(OCA2): c.-109T> C single nucleotide variant Uncertain significance rs886051027 GRCh38 Chromosome 15, 28099311: 28099311
200 OCA2 NM_000275.2(OCA2): c.-109T> C single nucleotide variant Uncertain significance rs886051027 GRCh37 Chromosome 15, 28344457: 28344457
201 OCA2 NM_000275.2(OCA2): c.*50A> G single nucleotide variant Likely benign rs7175266 GRCh37 Chromosome 15, 28000484: 28000484
202 OCA2 NM_000275.2(OCA2): c.*50A> G single nucleotide variant Likely benign rs7175266 GRCh38 Chromosome 15, 27755338: 27755338
203 OCA2 NM_000275.2(OCA2): c.2432+11A> G single nucleotide variant Uncertain significance rs145577954 GRCh37 Chromosome 15, 28090094: 28090094
204 OCA2 NM_000275.2(OCA2): c.2432+11A> G single nucleotide variant Uncertain significance rs145577954 GRCh38 Chromosome 15, 27844948: 27844948
205 OCA2 NM_000275.2(OCA2): c.1785-7C> G single nucleotide variant Uncertain significance rs375281082 GRCh37 Chromosome 15, 28200368: 28200368
206 OCA2 NM_000275.2(OCA2): c.1785-7C> G single nucleotide variant Uncertain significance rs375281082 GRCh38 Chromosome 15, 27955222: 27955222
207 OCA2 NM_000275.2(OCA2): c.1553T> A (p.Leu518His) single nucleotide variant Uncertain significance rs886051021 GRCh37 Chromosome 15, 28211919: 28211919
208 OCA2 NM_000275.2(OCA2): c.1553T> A (p.Leu518His) single nucleotide variant Uncertain significance rs886051021 GRCh38 Chromosome 15, 27966773: 27966773
209 OCA2 NM_000275.2(OCA2): c.1326C> T (p.Asn442=) single nucleotide variant Uncertain significance rs886051025 GRCh37 Chromosome 15, 28230248: 28230248
210 OCA2 NM_000275.2(OCA2): c.1326C> T (p.Asn442=) single nucleotide variant Uncertain significance rs886051025 GRCh38 Chromosome 15, 27985102: 27985102
211 OCA2 NM_000275.2(OCA2): c.1303G> A (p.Val435Ile) single nucleotide variant Uncertain significance rs549399707 GRCh38 Chromosome 15, 27985125: 27985125
212 OCA2 NM_000275.2(OCA2): c.1303G> A (p.Val435Ile) single nucleotide variant Uncertain significance rs549399707 GRCh37 Chromosome 15, 28230271: 28230271

Expression for Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for Oculocutaneous Albinism

Pathways related to Oculocutaneous Albinism according to KEGG:

37 (showing 2, show less)
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Melanogenesis hsa04916

Pathways related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP3B1 BLOC1S3 BLOC1S6
2 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Oculocutaneous Albinism

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.71 HPS1 HPS4 HPS6 TYR
2 axon cytoplasm GO:1904115 9.5 AP3B1 BLOC1S3 BLOC1S6
3 melanosome GO:0042470 9.46 HPS4 SLC24A5 TYR TYRP1
4 BLOC-1 complex GO:0031083 9.37 BLOC1S3 BLOC1S6
5 BLOC-3 complex GO:0031085 9.26 HPS1 HPS4
6 BLOC-2 complex GO:0031084 9.13 HPS3 HPS5 HPS6
7 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.77 AP3B1 BLOC1S6 HPS4 HPS5 HPS6
2 visual perception GO:0007601 9.71 HPS1 SLC45A2 TYR
3 melanosome organization GO:0032438 9.62 AP3B1 BLOC1S3 BLOC1S6 TYRP1
4 anterograde axonal transport GO:0008089 9.61 AP3B1 BLOC1S3 BLOC1S6
5 anterograde synaptic vesicle transport GO:0048490 9.58 AP3B1 BLOC1S3 BLOC1S6
6 organelle organization GO:0006996 9.56 HPS3 HPS4 HPS5 HPS6
7 lysosome organization GO:0007040 9.55 HPS1 HPS4
8 melanosome transport GO:0032402 9.52 BLOC1S3 BLOC1S6
9 developmental pigmentation GO:0048066 9.51 OCA2 SLC45A2
10 endosome to melanosome transport GO:0035646 9.49 BLOC1S3 BLOC1S6
11 melanosome assembly GO:1903232 9.48 HPS1 HPS4
12 eye pigment biosynthetic process GO:0006726 9.46 OCA2 TYR
13 melanin biosynthetic process GO:0042438 9.46 OCA2 SLC45A2 TYR TYRP1
14 melanocyte differentiation GO:0030318 9.43 BLOC1S6 HPS4 HPS6 LRMDA OCA2 TYRP1
15 pigmentation GO:0043473 9.28 BLOC1S3 BLOC1S6 HPS3 HPS5 HPS6 MC1R

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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