OCA
MCID: OCL002
MIFTS: 54

Oculocutaneous Albinism (OCA) malady

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

Aliases & Classifications for Oculocutaneous Albinism

Aliases & Descriptions for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 12 50 25 14
Albinism, Oculocutaneous 50 25 29
Oca 50 25
Albinism Oculocutaneous 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0050632
ICD10 33 E70.3

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 ia and albinism, oculocutaneous, type ii, and has symptoms including photophobia, nystagmus and visual impairment. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Melanin biosynthesis. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are growth/size/body region and craniofacial

NIH Rare Diseases : 50 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 gene mutations 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. last updated: 10/17/2012

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

Wikipedia : 71 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 V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 12.0
2 albinism, oculocutaneous, type ii 12.0
3 minimal pigment oculocutaneous albinism type 1 12.0
4 albinism, oculocutaneous, type ib 11.9
5 chediak-higashi syndrome 11.8
6 brown oca 11.8
7 albinism, oculocutaneous, type vi 11.8
8 albinism, oculocutaneous, type v 11.7
9 hermansky-pudlak syndrome 11.7
10 hermansky-pudlak syndrome 2 11.6
11 albinism, oculocutaneous, type iii 11.5
12 albinism, oculocutaneous, type iv 11.4
13 ocular albinism 11.3
14 albinism, oculocutaneous, type vii 11.3
15 albinism 11.1
16 hermansky-pudlak syndrome 1 11.1
17 hermansky-pudlak syndrome 6 11.0
18 hermansky-pudlak syndrome 5 11.0
19 hermansky-pudlak syndrome 3 11.0
20 hermansky-pudlak syndrome 9 11.0
21 hermansky-pudlak syndrome 8 11.0
22 hermansky-pudlak syndrome 7 11.0
23 hermansky-pudlak syndrome 4 11.0
24 albinism, minimal pigment type 11.0
25 kotzot-richter syndrome 11.0
26 melanoma 10.4
27 choroiditis 10.2
28 pyloric stenosis, infantile hypertrophic, 3 10.2 OCA2 TYR
29 amelanotic melanoma 10.1
30 squamous cell carcinoma 10.1
31 stomach diverticulosis 10.1 TYR TYRP1
32 gallbladder disease 10.1 TYR TYRP1
33 mental retardation, autosomal recessive 47 10.1 TYR TYRP1
34 arterial calcification of infancy 10.1 OCA2 SLC45A2 TYR
35 pseudomembranous conjunctivitis 10.1 MC1R OCA2
36 aicardi-goutieres syndrome 6 10.1 OCA2 TYR TYRP1
37 cervical incompetence 10.0 MC1R OCA2 TYR
38 small intestine diverticulitis 10.0 MC1R OCA2 TYR
39 short-rib thoracic dysplasia 1 with or without polydactyly 10.0 MC1R OCA2 TYRP1
40 neurocutaneous melanosis, somatic 10.0 MC1R TYR
41 epidermolysis bullosa simplex, recessive 1 10.0 TYR TYRP1
42 cataract 10.0
43 schizophrenia 10.0
44 keratoconus 10.0
45 prader-willi syndrome 10.0
46 angelman syndrome 10.0
47 pulmonary fibrosis 10.0
48 idiopathic hypercalciuria 9.9 HPS3 HPS6
49 bipolar disorder 9.8
50 actinic cheilitis 9.8

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

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.19 AP3B1 BLOC1S3 HPS4 HPS6 MC1R OCA2
2 craniofacial MP:0005382 10.16 AP3B1 BLOC1S3 HPS4 HPS6 MC1R OCA2
3 behavior/neurological MP:0005386 10.13 AP3B1 BLOC1S3 MC1R OCA2 SLC24A5 SLC45A2
4 hearing/vestibular/ear MP:0005377 10.13 AP3B1 BLOC1S3 HPS4 HPS6 MC1R OCA2
5 integument MP:0010771 10.11 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 MC1R
6 homeostasis/metabolism MP:0005376 10.09 AP3B1 HPS3 HPS4 HPS6 OCA2 SLC24A5
7 hematopoietic system MP:0005397 10 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 MC1R
8 immune system MP:0005387 9.95 AP3B1 BLOC1S3 HPS3 HPS6 MC1R OCA2
9 pigmentation MP:0001186 9.9 HPS6 MC1R OCA2 SLC24A5 SLC45A2 TYR
10 limbs/digits/tail MP:0005371 9.72 OCA2 TYR AP3B1 BLOC1S3 MC1R
11 no phenotypic analysis MP:0003012 9.65 AP3B1 HPS3 MC1R OCA2 TYR
12 renal/urinary system MP:0005367 9.35 AP3B1 HPS4 HPS6 OCA2 TYR
13 vision/eye MP:0005391 9.32 BLOC1S3 HPS3 HPS4 HPS6 OCA2 SLC24A5

Drugs & Therapeutics for Oculocutaneous Albinism

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

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2 28860-95-9 34359 38101
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2 59-92-7 6047
4
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
5
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
6
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
9
Pirfenidone Investigational Phase 2 53179-13-8 40632
10 Antiparkinson Agents Phase 2
11 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
12 Autonomic Agents Phase 2
13 Carbidopa, levodopa drug combination Phase 2
14 Dopamine Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Peripheral Nervous System Agents Phase 2,Phase 1
17 Protective Agents Phase 2,Phase 1
18 Analgesics Phase 2,Phase 1
19 Analgesics, Non-Narcotic Phase 2,Phase 1
20 Anti-Inflammatory Agents Phase 2,Phase 1
21 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
22 Antirheumatic Agents Phase 2,Phase 1
23
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
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
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
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

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2
2 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2
3 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2
4 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2
5 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2
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
9 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
10 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
11 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
12 Clinical and Basic 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:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

39
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 364)
id Title Authors Year
1
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
2
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
3
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
4
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
5
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
6
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
7
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
8
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
9
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
10
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
11
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
12
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
13
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
14
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
15
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
16
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
17
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
18
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
19
Oculocutaneous albinism. ( 25763554 )
2015
20
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
21
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
22
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
23
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
24
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
25
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
26
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
27
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
28
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
29
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
30
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
31
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
32
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
33
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
34
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
35
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. ( 25296693 )
2014
36
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. ( 24659353 )
2014
37
Mutational analysis of oculocutaneous albinism: a compact review. ( 25093188 )
2014
38
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
39
An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism. ( 25005209 )
2014
40
Clinical utility gene card for: Oculocutaneous albinism. ( 24518832 )
2014
41
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. ( 24096233 )
2014
42
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type a8!]. ( 25119903 )
2014
43
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
44
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). ( 25216246 )
2014
45
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
46
Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism. ( 25323647 )
2014
47
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
48
Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-eastern Nigeria. ( 24806601 )
2014
49
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations. ( 24461674 )
2014
50
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24876456 )
2014

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
3 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
4 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 MC1R TYR TYRP1
2 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Oculocutaneous Albinism

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.54 HPS4 HPS6 TYR
2 lysosomal membrane GO:0005765 9.5 AP3B1 HPS6 OCA2
3 axon cytoplasm GO:1904115 9.26 AP3B1 BLOC1S3
4 melanosome GO:0042470 9.26 HPS4 SLC24A5 TYR TYRP1
5 BLOC-2 complex GO:0031084 9.16 HPS3 HPS6
6 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.65 AP3B1 HPS4 HPS6
2 melanosome organization GO:0032438 9.5 AP3B1 BLOC1S3 TYRP1
3 anterograde axonal transport GO:0008089 9.46 AP3B1 BLOC1S3
4 melanocyte differentiation GO:0030318 9.46 HPS4 HPS6 OCA2 TYRP1
5 anterograde synaptic vesicle transport GO:0048490 9.43 AP3B1 BLOC1S3
6 organelle organization GO:0006996 9.43 HPS3 HPS4 HPS6
7 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
8 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
9 melanin biosynthetic process GO:0042438 9.35 MC1R OCA2 SLC45A2 TYR TYRP1
10 pigmentation GO:0043473 9.17 BLOC1S3 HPS3 HPS6 MC1R OCA2 TYR

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

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 TYR TYRP1
2 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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