MCID: ALB019
MIFTS: 31

Albinism, Oculocutaneous, Type Iv malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

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Aliases & Descriptions for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 49
Oca4 21 22 51 67
Oculocutaneous Albinism Type 4 21 22 51
 
Oculocutaneous Albinism, Type Iv 11 65
Oculocutaneous Albinism Type Iv 67 24
Albinism, Oculocutaneous, 4 67

Characteristics:

Orphanet epidemiological data:

51
oca4:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
albinism, oculocutaneous, type iv:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606574
Orphanet51 79435
ICD10 via Orphanet28 E70.3
MedGen34 C1847836
MeSH36 D016115
UMLS65 C1847836

Summaries for Albinism, Oculocutaneous, Type Iv

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UniProtKB/Swiss-Prot:67 Albinism, oculocutaneous, 4: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary: Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to albinism, oculocutaneous, type ia and deficiency anemia, and has symptoms including generalized hypopigmentation, hypopigmentation of hair and strabismus. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include skin and eye.

Description from OMIM:49 606574

GeneReviews summary for NBK1510

Related Diseases for Albinism, Oculocutaneous, Type Iv

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



Diseases related to albinism, oculocutaneous, type iv

Symptoms for Albinism, Oculocutaneous, Type Iv

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Clinical features from OMIM:

606574

Symptoms:

 51 (show all 11)
  • strabismus/squint
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • iris albinism/ocular albinism
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • photophobia
  • nystagmus
  • macular dystrophy/absence/hypoplasia of the macula
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Albinism, Oculocutaneous, Type Iv:

(show all 17)
id Description Frequency HPO Source Accession
1 generalized hypopigmentation hallmark (90%) HP:0007513
2 hypopigmentation of hair hallmark (90%) HP:0005599
3 strabismus hallmark (90%) HP:0000486
4 abnormality of retinal pigmentation typical (50%) HP:0007703
5 ocular albinism typical (50%) HP:0001107
6 optic atrophy typical (50%) HP:0000648
7 nystagmus typical (50%) HP:0000639
8 photophobia typical (50%) HP:0000613
9 visual impairment typical (50%) HP:0000505
10 neoplasm of the skin occasional (7.5%) HP:0008069
11 hypopigmentation of the fundus HP:0007894
12 hypopigmentation of hair HP:0005599
13 macular hypoplasia HP:0001104
14 albinism HP:0001022
15 nystagmus HP:0000639
16 blue irides HP:0000635
17 visual impairment HP:0000505

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

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

(show all 37)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
3
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
4
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
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
6Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
7Hypolipidemic AgentsPhase 1, Phase 22228
8HormonesPhase 1, Phase 211748
9Hormone AntagonistsPhase 1, Phase 210002
10ExpectorantsPhase 1, Phase 2337
11Gastrointestinal AgentsPhase 1, Phase 26401
12Leukotriene AntagonistsPhase 1, Phase 2270
13Analgesics, Non-NarcoticPhase 1, Phase 25184
14Protective AgentsPhase 1, Phase 25651
15Respiratory System AgentsPhase 1, Phase 23931
16AnalgesicsPhase 1, Phase 29358
17Pharmaceutical SolutionsPhase 1, Phase 27004
18N-monoacetylcystinePhase 1, Phase 2293
19Peripheral Nervous System AgentsPhase 1, Phase 218510
20Erythromycin stearatePhase 1, Phase 292
21Erythromycin EthylsuccinatePhase 1, Phase 292
22Anticholesteremic AgentsPhase 1, Phase 21732
23Antihypertensive AgentsPhase 1, Phase 23618
24Anti-Infective AgentsPhase 1, Phase 217220
25Anti-Bacterial AgentsPhase 1, Phase 29140
26Anti-Arrhythmia AgentsPhase 1, Phase 22371
27Angiotensin Receptor AntagonistsPhase 1, Phase 21039
28AngiotensinogenPhase 1, Phase 21032
29Anti-Inflammatory AgentsPhase 1, Phase 28478
30Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 23549
31
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
32Erythromycin EstolatePhase 1, Phase 292
33Antiviral AgentsPhase 1, Phase 28071
34Antirheumatic AgentsPhase 1, Phase 28496
35AntimetabolitesPhase 1, Phase 29454
36AntioxidantsPhase 1, Phase 22442
37Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2

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Genetic Tests for Albinism, Oculocutaneous, Type Iv

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Genetic tests related to Albinism, Oculocutaneous, Type Iv:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 422 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

33
Skin, Eye

Animal Models for Albinism, Oculocutaneous, Type Iv or affiliated genes

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Publications for Albinism, Oculocutaneous, Type Iv

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Variations for Albinism, Oculocutaneous, Type Iv

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

67 (show all 21)
id Symbol AA change Variation ID SNP ID
1SLC45A2p.Pro58AlaVAR_022710
2SLC45A2p.Pro58SerVAR_022711
3SLC45A2p.Asp157AsnVAR_022712
4SLC45A2p.Gly188ValVAR_022713
5SLC45A2p.Trp202CysVAR_022714
6SLC45A2p.Tyr317CysVAR_022717
7SLC45A2p.Leu361ProVAR_022718rs28939380
8SLC45A2p.Ala477ThrVAR_022719
9SLC45A2p.Ala486ValVAR_022720
10SLC45A2p.Met42IleVAR_067071
11SLC45A2p.Gly64SerVAR_067072
12SLC45A2p.Thr302SerVAR_067073
13SLC45A2p.Arg348CysVAR_067074
14SLC45A2p.Leu60ArgVAR_072602
15SLC45A2p.Gly110ArgVAR_073166
16SLC45A2p.Leu151ProVAR_073167
17SLC45A2p.Asp160HisVAR_073168
18SLC45A2p.His233GlnVAR_073169
19SLC45A2p.Gly349ArgVAR_073170
20SLC45A2p.Glu368LysVAR_073171
21SLC45A2p.Phe418LeuVAR_073172

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC45A2NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter)single nucleotide variantPathogenicrs794727511GRCh37Chr 5, 33963828: 33963828
2SLC45A2NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg)single nucleotide variantLikely pathogenicrs797045970GRCh38Chr 5, 33964001: 33964001
3SLC45A2NM_016180.4(SLC45A2): c.1454T> C (p.Leu485Pro)single nucleotide variantLikely pathogenicrs749544685GRCh38Chr 5, 33944787: 33944787
4SLC45A2NM_016180.4(SLC45A2): c.563-1G> Asingle nucleotide variantPathogenicrs730880270GRCh38Chr 5, 33964017: 33964017
5SLC45A2NM_016180.4(SLC45A2): c.1082T> C (p.Leu361Pro)single nucleotide variantPathogenicrs121912619GRCh37Chr 5, 33951733: 33951733
6SLC45A2NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs)deletionPathogenicrs387906317GRCh37Chr 5, 33954512: 33954512
7SLC45A2NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del)deletionPathogenicrs387906318GRCh37Chr 5, 33964021: 33964023
8SLC45A2NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val)single nucleotide variantPathogenicrs121912620GRCh37Chr 5, 33944889: 33944889
9SLC45A2NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn)single nucleotide variantPathogenicrs121912621GRCh37Chr 5, 33982434: 33982434
10SLC45A2NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs)deletionPathogenicrs730880271GRCh38Chr 5, 33951589: 33951589

Expression for genes affiliated with Albinism, Oculocutaneous, Type Iv

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

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Iv

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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Iv

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Sources for Albinism, Oculocutaneous, Type Iv

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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