MCID: OCL002
MIFTS: 49

Oculocutaneous Albinism malady

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

Aliases & Classifications for Oculocutaneous Albinism

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Aliases & Descriptions for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 10 45 23 12
Albinism, Oculocutaneous 45 23
 
Albinism Oculocutaneous 47 24
Oca 45 23

Classifications:



External Ids:

Disease Ontology10 DOID:0050632
ICD1027 E70.3

Summaries for Oculocutaneous Albinism

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Genetics Home Reference:23 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 ocular albinism and minimal pigment oculocutaneous albinism type 1, and has symptoms including visual impairment, nystagmus and cutaneous photosensitivity. An important gene associated with Oculocutaneous Albinism is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways is Tyrosine metabolism. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are limbs/digits/tail and reproductive system.

Disease Ontology:10 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

NIH Rare Diseases:45 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

Wikipedia:68 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Related Diseases for Oculocutaneous Albinism

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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 296)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism27.3AP3B1, BLOC1S3, C10orf11, HPS3, HPS4, OCA2
2minimal pigment oculocutaneous albinism type 112.5
3temperature-sensitive oculocutaneous albinism type 112.5
4albinism, oculocutaneous, type ia12.4
5albinism, oculocutaneous, type ii12.4
6brown oca12.3
7albinism, oculocutaneous, type ib12.3
8albinism, oculocutaneous, type vi12.1
9albinism, oculocutaneous, type iii12.0
10albinism, oculocutaneous, type v12.0
11albinism, oculocutaneous, type iv11.9
12chediak-higashi syndrome11.8
13hermansky-pudlak syndrome 211.8
14albinism, oculocutaneous, type vii11.8
15albinism, minimal pigment type11.5
16kotzot-richter syndrome11.5
17hermansky-pudlak syndrome10.8
18cervical squamous cell carcinoma10.8
19hermansky-pudlak syndrome 110.6
20endotheliitis10.5
21hermansky-pudlak syndrome 310.5
22hermansky-pudlak syndrome 710.5
23hermansky-pudlak syndrome 610.5
24hermansky-pudlak syndrome 510.5
25hermansky-pudlak syndrome 910.5
26hermansky-pudlak syndrome 810.5
27hermansky-pudlak syndrome 410.5
28pancreatitis10.5
29osteoporosis10.4
30lung cancer10.4
31obesity10.4
32dermatomyositis10.4
33sarcoma10.4
34tuberculosis10.4
35meningitis10.4
36atopy10.3
37breast cancer10.3
38arthritis10.3
39leukemia10.3
40ehrlichiosis10.3
41microphthalmia10.3
42heart disease10.3
43idiopathic generalized epilepsy10.3
44cervicitis10.3
45acute pancreatitis10.3
46adenocarcinoma10.3
47cerebritis10.3
48angiolipoma10.3
49myositis10.3
50thyroiditis10.3

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



Diseases related to oculocutaneous albinism

Symptoms for Oculocutaneous Albinism

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HPO human phenotypes related to Oculocutaneous Albinism:

(show all 14)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 cutaneous photosensitivity hallmark (90%) HP:0000992
4 ocular albinism hallmark (90%) HP:0001107
5 hypopigmentation of hair hallmark (90%) HP:0005599
6 generalized hypopigmentation hallmark (90%) HP:0007513
7 astigmatism typical (50%) HP:0000483
8 strabismus typical (50%) HP:0000486
9 visual impairment typical (50%) HP:0000505
10 hypermetropia typical (50%) HP:0000540
11 myopia typical (50%) HP:0000545
12 photophobia typical (50%) HP:0000613
13 abnormality of the macula typical (50%) HP:0001103
14 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Oculocutaneous Albinism

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

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 2308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2
Nitisinoneapproved, investigationalPhase 1, Phase 214104206-65-7115355
Synonyms:
104206-65-7
2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione
2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione
2-(alpha,alpha,alpha-Trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione
2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione
2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione
AC1L3GZK
BIDD:PXR0129
C14H10F3NO5
CHEBI:50378
CHEMBL1337
CID115355
D05177
DB00348
 
FE-0200
LS-56815
Nitisinona
Nitisinone
Nitisinone (JAN/USAN/INN)
Nitisinone (NTBC)
Nitisinone [INN]
Nitisinone [USAN:INN]
Nitisinonum
Nitisone
Orfadin
Orfadin (TN)
SC 0735
UNII-K5BN214699
nitisinona
nitisinonum
3
CarbidopaapprovedPhase 215928860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(S)-(-)-Carbidopa hydrate
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa hydrate
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa monohydrate
Carbidopa, (S)-Isomer
 
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
Carbidopum
Carbidopum [INN-Latin]
Carbidopum monohydricum
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-Dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopa hydrate
carbidopum monohydricum
4
LevodopaapprovedPhase 236359-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
5
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
6
LosartanapprovedPhase 1, Phase 2276114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
7
ErythromycinapprovedPhase 1, Phase 292114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E.e.s
E.e.s.
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythra-derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
 
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin Base
Erythromycin Base Base
Erythromycin Base Filmtab
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
8
PravastatinapprovedPhase 1, Phase 214481093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
Oliprevin
 
Pravachol
Pravaselect
Pravastatin
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
9
PirfenidoneinvestigationalPhase 24253179-13-840632
Synonyms:
5-21-07-00197 (Beilstein Handbook Reference)
5-Methyl-1-phenyl-1H-pyridin-2-one
5-Methyl-1-phenyl-2(1H)-pyridone
5-Methyl-1-phenyl-2-(1H)-pyridone
5-methyl-1-phenylpyridin-2(1H)-one
5-methyl-1-phenylpyridin-2-one
53179-13-8
AC-6797
AC1L2454
AMR 69
AMR-69
BRD-K96862998-001-03-1
BRN 1526549
Bio1_000397
Bio1_000886
Bio1_001375
C093844
C12H11NO
CID40632
D01583
Deskar
EN000704
EU-0100907
Esbriet
F-647
FT-0082541
 
I01-1466
KS-5041
LS-133834
Lopac-P-2116
Lopac0_000907
MLS000860042
NCGC00015806-01
NCGC00015806-03
NCGC00015806-05
NCGC00024992-01
NCGC00024992-02
NCGC00024992-03
P 2116
P2116_SIGMA
PIRFENIDONE
Pirespa
Pirfenidona
Pirfenidona [INN-Spanish]
Pirfenidone (Deskar)
Pirfenidone (JAN/USAN/INN)
Pirfenidone [USAN:INN]
Pirfenidonum
Pirfenidonum [INN-Latin]
S-7701
SMR000326900
Tocris-1093
ZINC00001958
10Neurotransmitter AgentsPhase 214795
11Carbidopa, levodopa drug combinationPhase 2104
12Antiparkinson AgentsPhase 21312
13Aromatic Amino Acid Decarboxylase InhibitorsPhase 2116
14Contraceptives, OralPhase 23734
15Dopamine AgentsPhase 23084
16Peripheral Nervous System AgentsPhase 2, Phase 118510
17Anti-Inflammatory AgentsPhase 2, Phase 18478
18Analgesics, Non-NarcoticPhase 2, Phase 15184
19AnalgesicsPhase 2, Phase 19358
20Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 13549
21Antirheumatic AgentsPhase 2, Phase 18496
22HormonesPhase 1, Phase 211748
23Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
24ExpectorantsPhase 1, Phase 2337
25Gastrointestinal AgentsPhase 1, Phase 26401
26Hormone AntagonistsPhase 1, Phase 210002
27Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
28Hypolipidemic AgentsPhase 1, Phase 22228
29Pharmaceutical SolutionsPhase 1, Phase 27004
30N-monoacetylcystinePhase 1, Phase 2293
31Respiratory System AgentsPhase 1, Phase 23931
32Leukotriene AntagonistsPhase 1, Phase 2270
33Protective AgentsPhase 1, Phase 25651
34Anticholesteremic AgentsPhase 1, Phase 21732
35Anti-Arrhythmia AgentsPhase 1, Phase 22371
36Anti-Bacterial AgentsPhase 1, Phase 29140
37AngiotensinogenPhase 1, Phase 21032
38Angiotensin Receptor AntagonistsPhase 1, Phase 21039
39
Angiotensin IIPhase 1, Phase 2103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
40Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949
41Erythromycin stearatePhase 1, Phase 292
42Antihypertensive AgentsPhase 1, Phase 23618
43Erythromycin EstolatePhase 1, Phase 292
44Erythromycin EthylsuccinatePhase 1, Phase 292
45Anti-Infective AgentsPhase 1, Phase 217220
46Antiviral AgentsPhase 1, Phase 28071
47AntioxidantsPhase 1, Phase 22442
48AntimetabolitesPhase 1, Phase 29454
49
Luteinapproved, nutraceutical69127-40-25368396, 6433159
Synonyms:
(3R,3'R)-beta,beta-Carotene-3,3'-Diol, Lutein
(3R,3'R,6'R)-Lutein
(3R,3'R,6S)-4,5-Didehydro-5,6-Dihydro-beta,beta-Carotene-3,3'-Diol
3,3'-Dihydroxy-alpha-carotene
4,5-Didehydro-5,6-dihydro-beta,beta-carotene-3,3'-diol
All-trans-(+)-Xanthophyll
All-trans-Lutein
All-trans-Xanthophyll
 
Bo-Xan
Lutein
Lutein ester
Luteine
Phylloxanthin
SID548587
Vegetable lutein
Vegetable luteol
beta,epsilon-Carotene-3,3'-diol
trans-Lutein

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Vision Response to Dopamine ReplacementRecruitingNCT01663935Phase 2
2Nitisinone for Type 1B Oculocutaneous AlbinismRecruitingNCT01838655Phase 1, Phase 2
3Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
4Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
5Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
6Visual Function and Ocular Pigmentation in AlbinismCompletedNCT00001153
7Clinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismRecruitingNCT00808106
8The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With AlbinismRecruitingNCT02200263
9Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
10A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340
11Study of Chediak-Higashi SyndromeRecruitingNCT00005917
12Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

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Anatomical Context for Oculocutaneous Albinism

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MalaCards organs/tissues related to Oculocutaneous Albinism:

33
Skin, Eye, Retina, Breast, Lung, Prostate, Heart

Animal Models for Oculocutaneous Albinism or affiliated genes

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MGI Mouse Phenotypes related to Oculocutaneous Albinism:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3AP3B1, BLOC1S3, OCA2, TYR
2MP:00053899.1AP3B1, OCA2, SLC45A2, TYR, TYRP1
3MP:00053827.9AP3B1, BLOC1S3, HPS4, OCA2, SLC24A5, TYRP1
4MP:00053777.7AP3B1, BLOC1S3, HPS4, OCA2, SLC24A5, TYRP1
5MP:00053877.3AP3B1, BLOC1S3, C10orf11, HPS3, OCA2, TYR
6MP:00053977.3AP3B1, BLOC1S3, C10orf11, HPS3, HPS4, OCA2
7MP:00053867.2AP3B1, BLOC1S3, C10orf11, OCA2, SLC24A5, SLC45A2
8MP:00053787.2AP3B1, BLOC1S3, HPS4, OCA2, SLC24A5, SLC45A2
9MP:00011867.0AP3B1, BLOC1S3, HPS3, HPS4, OCA2, SLC24A5
10MP:00107717.0AP3B1, BLOC1S3, HPS3, HPS4, OCA2, SLC24A5
11MP:00053916.9AP3B1, BLOC1S3, HPS3, HPS4, OCA2, SLC24A5
12MP:00053766.5AP3B1, C10orf11, HPS3, HPS4, OCA2, SLC24A5

Publications for Oculocutaneous Albinism

About this section

Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 347)
idTitleAuthorsYear
1
A Decade of Change: Recent Developments in Pharmacotherapy of Hereditary Angioedema (HAE). (27207174)
2016
2
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. (26700338)
2016
3
Overexpressed NLRC3 acts as an anti-inflammatory cytosolic protein. (25277106)
2015
4
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. (26222694)
2015
5
Quality of Survival and Growth in Children and Young Adults in the PNET4 European Controlled Trial of Hyperfractionated Versus Conventional Radiation Therapy for Standard-Risk Medulloblastoma. (24239386)
2014
6
Analysis of viral testing in nonacetaminophen pediatric acute liver failure. (25340974)
2014
7
Increased LINGO1 in the cerebellum of essential tremor patients. (24531928)
2014
8
Neuromodulation for treatment-refractory major depressive disorder. (23897945)
2014
9
Neonatal hip septic arthritis: ultrasound should not influence decision to aspirate. (23960065)
2013
10
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) of the ileum in a 35-year-old Japanese woman. (23638229)
2013
11
Zinc-dependent modulation of alpha2- and alpha3-glycine receptor subunits by ethanol. (23895467)
2013
12
Clinical implication of protease-activated receptor-2 in idiopathic pulmonary fibrosis. (23131707)
2013
13
Inferring the metabolism of human orphan metabolites from their metabolic network context affirms human gluconokinase activity. (23067238)
2013
14
Anogenital Distance and Penile Length in Infants with Hypospadias or Cryptorchidism: Comparison with Normative Data. (24316680)
2013
15
Pacing as a strategy to improve energy management in myalgic encephalomyelitis/chronic fatigue syndrome: a consensus document. (22181560)
2012
16
MMP2 expression is a prognostic marker for primary melanoma patients. (22669775)
2012
17
Circulating levels of thrombospondin-1 are decreased in HELLP syndrome. (22035632)
2012
18
Cataract surgery in Knobloch syndrome: a case report. (21691582)
2011
19
Cognitive determinants of pain and disability in patients with chronic whiplash-associated disorder: a cross-sectional observational study. (20420962)
2010
20
MicroRNA-mediated switching of chromatin-remodelling complexes in neural development. (19561591)
2009
21
Vimentin coil 1A-A molecular switch involved in the initiation of filament elongation. (19422834)
2009
22
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association. (18478261)
2009
23
Delayed and persistent ERK1/2 activation is required for 4-hydroxytamoxifen-induced cell death. (17714751)
2007
24
Molecular dynamics simulation of human neurohypophyseal hormone receptors complexed with oxytocin-modeling of an activated state. (16114099)
2006
25
Transcriptional targets of hepatocyte growth factor signaling and Ki-ras oncogene activation in colorectal cancer. (16158056)
2006
26
Radiation therapy for retroperitoneal sarcoma. (16925491)
2006
27
Epigenetic silencing of multiple genes in primary CNS lymphoma. (16858686)
2006
28
Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. (16344424)
2005
29
Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome. (15897889)
2005
30
Clinical usefulness of circulating tumor markers]. (15272600)
2004
31
Sympathetic ophthalmia following ciliary body laser cyclophotocoagulation for rubeotic glaucoma. (15068439)
2004
32
Androgen-independent growth in LNCaP cell lines and steroid uridine diphosphate-glucuronosyltransferase expression. (12646996)
2003
33
Lipid length controls antigen entry into endosomal and nonendosomal pathways for CD1b presentation. (11938350)
2002
34
Detection of telomerase activity in human carcinomas using a trap-ELISA method: correlation with hTR and hTERT expression. (10675498)
2000
35
Fine-needle aspiration cytologic diagnosis of intrahepatic biliary papillomatosis (intraductal papillary tumor): report of three cases and comparative study with cholangiocarcinoma. (10790236)
2000
36
United Kingdom Prospective Diabetes Study 24: a 6-year, randomized, controlled trial comparing sulfonylurea, insulin, and metformin therapy in patients with newly diagnosed type 2 diabetes that could not be controlled with diet therapy. United Kingdom Prospective Diabetes Study Group. (9454524)
1998
37
Epididymo-orchitis and Reiter's disease. Two infrequent complications after intravesical bacillus Calmette-GuAcrin therapy. (9249904)
1997
38
Calcium/calmodulin-dependent protein kinase kinase: identification of regulatory domains. (9335539)
1997
39
Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. (8921873)
1996
40
Therapeutic actions of garlic constituents. (8788216)
1996
41
Mutagenic analysis of the destruction signal of mitotic cyclins and structural characterization of ubiquitinated intermediates. (8885231)
1996
42
Stress-induced activation of sympathetic nervous system is attenuated by the delta-opioid receptor agonist deltorphin in healthy man. (8263131)
1993
43
Characterization of the beta-subunit of the H(+)-K(+)-ATPase using an inhibitory monoclonal antibody. (8279517)
1993
44
Inhibition by ethanol of the oxytocin response to breast stimulation in normal women and the role of endogenous opioids. (1574949)
1992
45
Sense and antisense cDNA transfection of CD36 (glycoprotein IV) in melanoma cells. Role of CD36 as a thrombospondin receptor. (1379600)
1992
46
Inhibition of human leukocyte elastase by N-substituted peptides containing alpha,alpha-difluorostatone residues at P1. (1479581)
1992
47
Decrease of elevated plasma leucine enkephalin levels by thyrotropin-releasing hormone in traumatic tetraplegics during spinal shock. (3106200)
1986
48
Emergent treatment of central retinal artery occlusion caused by embolism. (6878717)
1983
49
Small bowel structure and function in pancreatic steatorrhea. (1082072)
1975
50

Variations for Oculocutaneous Albinism

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Expression for genes affiliated with Oculocutaneous Albinism

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Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for genes affiliated with Oculocutaneous Albinism

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8TYR, TYRP1

GO Terms for genes affiliated with Oculocutaneous Albinism

About this section

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

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.4HPS4, SLC24A5

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

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:00424389.9OCA2, TYR
2anterograde synaptic vesicle transportGO:00484909.5AP3B1, BLOC1S3
3pigmentationGO:00434739.5BLOC1S3, TYRP1
4melanosome organizationGO:00324389.4AP3B1, TYRP1

Sources for Oculocutaneous Albinism

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet