MCID: ALB002
MIFTS: 47

Albinism

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

Aliases & Classifications for Albinism

MalaCards integrated aliases for Albinism:

Name: Albinism 74 52 29 54 6 32

Classifications:



External Ids:

ICD10 32 E70.3

Summaries for Albinism

NIH Rare Diseases : 52 Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer . Albinism is caused by mutations in one of several genes , and most types are inherited in an autosomal recessive manner. Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.

MalaCards based summary : Albinism is related to albinism, ocular, with sensorineural deafness and albinism, ocular, with late-onset sensorineural deafness. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Melanocyte Development and Pigmentation. 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 behavior/neurological and growth/size/body region

Wikipedia : 74 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

Related Diseases for Albinism

Diseases related to Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 382)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 34.5 TYR MITF
2 albinism, ocular, with late-onset sensorineural deafness 34.5 TYR MITF
3 tietz albinism-deafness syndrome 33.4 TYRP1 TYR SLC45A2 OCA2 MITF
4 aland island eye disease 33.4 LRMDA GPR143
5 syndromic oculocutaneous albinism 33.3 SLC24A5 OCA5 OCA2
6 albinism, oculocutaneous, type ia 33.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
7 albinism, oculocutaneous, type ib 33.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
8 albinism, oculocutaneous, type iii 33.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
9 chediak-higashi syndrome 32.9 TYRP1 TYR HPS1
10 albinism, oculocutaneous, type vii 32.9 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA GPR143
11 albinism, oculocutaneous, type ii 32.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
12 hermansky-pudlak syndrome 1 32.3 SLC24A5 HPS4 HPS1
13 albinism, oculocutaneous, type iv 32.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
14 albinism, oculocutaneous, type v 32.2 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
15 hermansky-pudlak syndrome 31.9 TYRP1 TYR SLC45A2 OCA2 HPS4 HPS1
16 piebald trait 31.6 TYRP1 TYR SLC45A2 OCA2 MITF MC1R
17 ocular albinism 31.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 OA3
18 waardenburg's syndrome 31.2 TYRP1 TYR MITF
19 waardenburg syndrome, type 2e 31.1 TYR MITF
20 strabismus 30.6 TYRP1 TYR SLC24A5 GPR143
21 pathologic nystagmus 30.5 TYRP1 TYR SLC45A2 OCA2 LRMDA GPR143
22 hermansky-pudlak syndrome with pulmonary fibrosis 30.5 HPS4 HPS1
23 amelanotic melanoma 30.5 TYRP1 TYR MITF
24 congenital nystagmus 30.5 TYR OCA2 MC1R GPR143
25 oculocutaneous albinism 30.3 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
26 hypomelanosis of ito 30.2 TYR MITF
27 skin carcinoma 30.1 TYRP1 TYR MC1R
28 actinic keratosis 30.0 TYR MITF MC1R
29 dowling-degos disease 1 30.0 TYRP1 TYR MITF
30 skin melanoma 29.8 TYR MITF MC1R
31 vitiligo-associated multiple autoimmune disease susceptibility 1 29.7 TYRP1 TYR MITF MC1R
32 microphthalmia 29.6 TYRP1 TYR MITF MC1R
33 melanoma 29.5 TYRP1 TYR SLC45A2 OCA2 MITF MC1R
34 melanoma, uveal 29.2 TYR MITF MC1R
35 albinism, ocular, type i 12.8
36 albinism, oculocutaneous, type vi 12.7
37 albinism-deafness syndrome 12.6
38 ocular albinism, x-linked 12.6
39 albinism-microcephaly-digital anomalies syndrome 12.6
40 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.5
41 oculocutaneous or ocular albinism 12.3
42 hermansky-pudlak syndrome 2 12.2
43 griscelli syndrome 12.2
44 minimal pigment oculocutaneous albinism type 1 12.2
45 deafness, congenital, with total albinism 12.2
46 griscelli syndrome, type 2 12.1
47 abcd syndrome 12.1
48 albinism, minimal pigment type 12.1
49 hermansky-pudlak syndrome 9 12.1
50 obsolete: pigmentation disorder with eye involvement, excluding albinism 12.1

Graphical network of the top 20 diseases related to Albinism:



Diseases related to Albinism

Symptoms & Phenotypes for Albinism

MGI Mouse Phenotypes related to Albinism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 LRMDA MC1R MITF OCA2 SLC24A5 SLC45A2
2 growth/size/body region MP:0005378 10.06 HPS1 HPS4 MC1R MITF OCA2 SLC24A5
3 craniofacial MP:0005382 10.03 HPS1 HPS4 MC1R MITF OCA2 SLC24A5
4 hearing/vestibular/ear MP:0005377 9.97 HPS1 HPS4 MC1R MITF OCA2 SLC24A5
5 integument MP:0010771 9.97 HPS1 HPS4 MC1R MITF OCA2 SLC24A5
6 limbs/digits/tail MP:0005371 9.65 HPS1 MC1R MITF OCA2 TYR
7 pigmentation MP:0001186 9.65 GPR143 HPS1 HPS4 MC1R MITF OCA2
8 no phenotypic analysis MP:0003012 9.55 HPS1 MC1R MITF OCA2 TYR
9 vision/eye MP:0005391 9.28 GPR143 HPS1 HPS4 MITF OCA2 SLC24A5

Drugs & Therapeutics for Albinism

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

(show all 46)
# 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
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 2 59-92-7 6047
6
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
7
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
8
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
9
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
10
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
11 Dihydroxyphenylalanine Phase 2
12 Neurotransmitter Agents Phase 2
13 Sympathomimetics Phase 2
14 Dopamine Agents Phase 2
15 Protective Agents Phase 2
16 Carbidopa, levodopa drug combination Phase 2
17 Autonomic Agents Phase 2
18 Antiparkinson Agents Phase 2
19 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
20 Pharmaceutical Solutions Phase 1, Phase 2
21 Anti-Arrhythmia Agents Phase 1, Phase 2
22 Anti-Bacterial Agents Phase 1, Phase 2
23 Hypolipidemic Agents Phase 1, Phase 2
24 Anticholesteremic Agents Phase 1, Phase 2
25 Respiratory System Agents Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Free Radical Scavengers Phase 1, Phase 2
28 N-monoacetylcystine Phase 1, Phase 2
29 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
30 Giapreza Phase 1, Phase 2
31 Erythromycin Estolate Phase 1, Phase 2
32 Hormone Antagonists Phase 1, Phase 2
33 Leukotriene Antagonists Phase 1, Phase 2
34 Erythromycin stearate Phase 1, Phase 2
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
36 Expectorants Phase 1, Phase 2
37 Angiotensin Receptor Antagonists Phase 1, Phase 2
38 Angiotensinogen Phase 1, Phase 2
39 Antiviral Agents Phase 1, Phase 2
40 Erythromycin Ethylsuccinate Phase 1, Phase 2
41 Antihypertensive Agents Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Lipid Regulating Agents Phase 1, Phase 2
44 Antidotes Phase 1, Phase 2
45 Antioxidants Phase 1, Phase 2
46
Lutein Approved, Investigational, Nutraceutical 127-40-2 6433159

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Clinical Trial to Evaluate Levodopa as Treatment to Improve Vision in Individuals With Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Placebo
2 A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B Completed NCT01838655 Phase 1, Phase 2 Nitisinone
3 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
4 Interventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous Albinism Terminated NCT01663935 Phase 2 Levodopa/carbidopa
5 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
6 An Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated Colitis Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
7 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
8 New Strategies of Genetic Study of Patients With Oculocutaneous Albinism Completed NCT04068961
9 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263
10 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
11 Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism Recruiting NCT00808106
12 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
13 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
14 Investigations Into Chediak-Higashi Syndrome and Related Disorders Recruiting NCT00005917
15 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
16 Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children Not yet recruiting NCT03959605
17 The Role of Dermoscopy in Diagnosis of Pigmentary Skin Lesions Not yet recruiting NCT03542539

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

Genetic tests related to Albinism:

# Genetic test Affiliating Genes
1 Albinism 29

Anatomical Context for Albinism

MalaCards organs/tissues related to Albinism:

40
Skin, Eye, Retina, Testes, Lung, Cortex, Bone

Publications for Albinism

Articles related to Albinism:

(show top 50) (show all 2534)
# Title Authors PMID Year
1
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. 54 61
20019752 2010
2
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 54 61
19604113 2009
3
AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1). 61 54
19436266 2009
4
Albinism and its implications with vision. 61 54
19534229 2009
5
L-DOPA is an endogenous ligand for OA1. 61 54
18828673 2008
6
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 61 54
16704458 2006
7
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 61 54
16185271 2005
8
Optic chiasm formation in humans is independent of foveal development. 54 61
16197526 2005
9
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. 61 54
15889046 2005
10
A Tyrosinase missense mutation causes albinism in the Wistar rat. 61 54
15760344 2005
11
Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin. 54 61
15677452 2005
12
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 54 61
14722913 2004
13
Investigation of albinism genes in congenital esotropia. 54 61
14685142 2003
14
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). 61 54
12727022 2003
15
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 54 61
12515581 2003
16
Genetics of hair and skin color. 54 61
14616056 2003
17
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 61 54
11793467 2002
18
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. 61 54
11574907 2001
19
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 54 61
11520764 2001
20
Translation rate of human tyrosinase determines its N-linked glycosylation level. 54 61
11069924 2001
21
The tyrosinase gene in gorillas and the albinism of 'Snowflake'. 54 61
11153699 2000
22
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. 54 61
10768343 2000
23
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". 54 61
8651291 1996
24
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. 61 54
8618053 1996
25
Distinguishing between the catalytic potential and apparent expression of tyrosinase activities. 54 61
7985719 1994
26
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. 61 54
8026428 1994
27
White mutants in mice shedding light on humans. 61 54
8433006 1993
28
Do pigmented naevi in albinism provide evidence of tyrosinase positivity? 54 61
1476926 1992
29
Comparative genetics of albinism. 54 61
2126367 1990
30
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. 61 54
1693779 1990
31
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. 61
30541351 2020
32
Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature. 61
31441797 2019
33
Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations. 61
31574285 2019
34
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. 61
31848469 2019
35
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. 61
31820501 2019
36
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]. 61
31813138 2019
37
X-linked ocular albinism: mapping and cloning the gene. 61
31836092 2019
38
Micro-probing enables fine-grained mapping of neuronal populations using fMRI. 61
31811903 2019
39
Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies. 61
30590075 2019
40
The transcription factor MITF in RPE function and dysfunction. 61
31242455 2019
41
Clinical variability and probable founder effect in oculocutaneous albinism type 7. 61
31694064 2019
42
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. 61
31141302 2019
43
The TYRP1-mediated protection of human tyrosinase activity does not involve stable interactions of tyrosinase domains. 61
31077632 2019
44
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. 61
31746431 2019
45
Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. 61
31486119 2019
46
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. 61
31233279 2019
47
Clinical and genetic variability in children with partial albinism. 61
31719542 2019
48
Chediak-Higashi syndrome: Lessons from a single-centre case series. 61
31477396 2019
49
Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model. 61
31776394 2019
50
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. 61
30472485 2019

Variations for Albinism

ClinVar genetic disease variations for Albinism:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
2 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
3 TYRP1 NM_000550.3(TYRP1):c.1103del (p.Lys368fs)deletion Pathogenic 17593 rs387906560 9:12704547-12704547 9:12704547-12704547
4 TYR NM_000372.5(TYR):c.242C>T (p.Pro81Leu)SNV Pathogenic 3772 rs28940876 11:88911363-88911363 11:89178195-89178195
5 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
6 TYRP1 NM_000550.3(TYRP1):c.1261+1G>ASNV Pathogenic/Likely pathogenic 437186 rs140365820 9:12704706-12704706 9:12704706-12704706
7 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)SNV Likely pathogenic 436090 rs141949212 15:28090198-28090198 15:27845052-27845052
8 TYR NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)SNV Likely pathogenic 437987 rs749979474 11:89018020-89018020 11:89284852-89284852
9 OCA2 NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)SNV Likely pathogenic 438059 rs1384042381 15:28202858-28202858 15:27957712-27957712
10 GPR143 NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)SNV Likely pathogenic 438187 rs62635042 X:9709484-9709484 X:9741444-9741444
11 OCA2 NM_000275.3(OCA2):c.646+1825_807+679deldeletion Likely pathogenic 438247 15:28262865-28265823 15:28017719-28020677
12 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940
13 TYR NM_000372.5(TYR):c.325G>A (p.Gly109Arg)SNV Likely pathogenic 99562 rs61753253 11:88911446-88911446 11:89178278-89178278
14 OCA2 NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)SNV Likely pathogenic 373910 rs142931246 15:28259941-28259941 15:28014795-28014795
15 GPR143 NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)SNV Likely pathogenic 98647 rs62635045 X:9709389-9709389 X:9741349-9741349
16 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)SNV Conflicting interpretations of pathogenicity 3779 rs1126809 11:89017961-89017961 11:89284793-89284793
17 NRL NM_006177.5(NRL):c.448_466dup (p.Glu156fs)duplication Uncertain significance 523490 rs1555339028 14:24550693-24550711 14:24081484-24081502

Expression for Albinism

Search GEO for disease gene expression data for Albinism.

Pathways for Albinism

Pathways related to Albinism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 TYRP1 TYR MITF MC1R
2 10.77 MITF MC1R
3 9.62 TYRP1 TYR SLC45A2 OCA2

GO Terms for Albinism

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.56 TYR HPS4 HPS1 GPR143
2 melanosome GO:0042470 9.35 TYRP1 TYR SLC24A5 HPS4 GPR143
3 BLOC-3 complex GO:0031085 9.16 HPS4 HPS1
4 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 GPR143

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 TYR SLC45A2 HPS1 GPR143
2 pigmentation GO:0043473 9.55 TYRP1 TYR OCA2 MITF MC1R
3 lysosome organization GO:0007040 9.46 HPS4 HPS1
4 melanosome organization GO:0032438 9.43 TYRP1 GPR143
5 eye pigment biosynthetic process GO:0006726 9.43 TYR OCA2 GPR143
6 developmental pigmentation GO:0048066 9.4 SLC45A2 OCA2
7 melanin biosynthetic process GO:0042438 9.35 TYRP1 TYR SLC45A2 OCA2 MC1R
8 melanosome assembly GO:1903232 9.32 HPS4 HPS1
9 melanocyte differentiation GO:0030318 9.1 TYRP1 SLC24A5 OCA2 MITF LRMDA HPS4

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

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.13 MITF HPS4 HPS1
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism

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