OASD
MCID: ALB025
MIFTS: 43

Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Name: Albinism, Ocular, with Late-Onset Sensorineural Deafness 56 71
Ocular Albinism with Sensorineural Deafness 56 12 52 13 15
Deafness and Ocular Albinism 56 52
Oasd 56 52
Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism 12
Ocular Albinism with Late-Onset Sensorineural Deafness 58
Albinism Ocular Late Onset Sensorineural Deafness 52
Albinism, Ocular, with Sensorineural Deafness 71
Digenic Waardenburg Syndrome/ocular Albinism 12
Digenic Waardenburg Syndrome/albinism 12
Ws2-Oa 12

Characteristics:

Orphanet epidemiological data:

58
ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
x-linked


HPO:

31
albinism, ocular, with late-onset sensorineural deafness:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090100
OMIM 56 300650
ICD10 32 E70.3
MESH via Orphanet 44 C537043
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1845069
Orphanet 58 ORPHA1000
MedGen 41 C1845069
UMLS 71 C1845069 C1863198

Summaries for Albinism, Ocular, with Late-Onset Sensorineural Deafness

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1000 Definition Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Ocular, with Late-Onset Sensorineural Deafness, also known as ocular albinism with sensorineural deafness, is related to albinism, ocular, with sensorineural deafness and ocular albinism. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is OASD (Ocular Albinism And Sensorineural Deafness), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Affiliated tissues include eye, and related phenotypes are nystagmus and sensorineural hearing impairment

Disease Ontology : 12 An ocular albinism that is characterized by deafness and vestibular dysfunction and has material basis in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

More information from OMIM: 300650

Related Diseases for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases in the Albinism, Ocular, with Sensorineural Deafness family:

Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 33.0 TYR MITF
2 ocular albinism 32.1 TYR OASD MITF
3 waardenburg syndrome type 4 10.4 SOX10 MITF
4 lateral displacement of eye 10.4 SOX10 MITF
5 waardenburg syndrome, type 2b 10.4 SOX10 MITF
6 malignant choroid melanoma 10.3 SOX10 MITF
7 gallbladder melanoma 10.3 SOX10 MITF
8 waardenburg syndrome, type 4c 10.3 SOX10 MITF
9 waardenburg syndrome, type 2d 10.3 SOX10 MITF
10 epithelioid cell melanoma 10.3 TYR MITF
11 uterus perivascular epithelioid cell tumor 10.3 TFE3 MITF
12 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
13 childhood kidney cell carcinoma 10.2 TFE3 MITF
14 ochronosis 10.2 TYR MITF
15 malignant spindle cell melanoma 10.2 TYR SOX10 MITF
16 waardenburg syndrome, type 4b 10.2 TYR SOX10 MITF
17 waardenburg syndrome, type 2e 10.2 TYR SOX10 MITF
18 branchiootic syndrome 1 10.2
19 albinism 10.2
20 tietz albinism-deafness syndrome 10.2 TYR SOX10 MITF
21 piebald trait 10.1 TYR SOX10 MITF
22 dowling-degos disease 1 10.1 TYR MITF
23 actinic keratosis 10.1 TYR SOX10 MITF
24 heritable thoracic aortic disease 10.1 SMAD4 SMAD3
25 waardenburg syndrome, type 2c 10.1 TFE3 SOX10 MITF
26 neurilemmoma 10.1 TYR SOX10 MITF
27 waardenburg syndrome, type 2a 10.1 TFE3 SOX10 MITF
28 neurofibroma 10.1 TYR SOX10 MITF
29 clear cell sarcoma 10.1 TFE3 SOX10 MITF
30 angiomyolipoma 10.0 TYR TFE3 MITF
31 hypomelanosis of ito 10.0 TYR MITF AKT3
32 nephrogenic systemic fibrosis 10.0 SMAD4 SMAD3 SMAD2
33 ureteral disease 9.9 SMAD4 SMAD3 SMAD2
34 clear cell adenocarcinoma 9.9 SMAD4 SMAD3 SMAD2
35 aortic aneurysm, familial thoracic 1 9.9 SMAD4 SMAD3 SMAD2
36 waardenburg's syndrome 9.9 TYR TFE3 SOX10 MITF
37 loeys-dietz syndrome 9.8 SMAD4 SMAD3 SMAD2
38 peyronie's disease 9.7 SMAD4 SMAD3 HLA-A
39 hemimegalencephaly 9.7 CTNNB1 AKT3
40 hypertrophic scars 9.6 SMAD3 SMAD2
41 melanoma, cutaneous malignant 1 9.4 TYR SOX10 MITF CTNNB1 AKT3
42 cowden syndrome 9.4 SMAD4 AKT3 AKT2
43 melanoma, uveal 9.3 TYR SOX10 SMAD4 MITF HLA-A
44 microphthalmia 9.3 TYR TFE3 SOX10 MITF EP300 CTNNB1
45 pancreatic adenocarcinoma 9.1 SMAD4 SMAD3 SMAD2 CTNNB1 AKT2
46 endometrial cancer 8.5 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
47 pancreatic cancer 8.2 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
48 autosomal dominant non-syndromic intellectual disability 19 6.7 TFE3 SMAD4 SMAD3 SMAD2 PTCHD3 MITF

Graphical network of the top 20 diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:



Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness

Symptoms & Phenotypes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
5 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 nystagmus-induced head nodding 31 HP:0001361
8 giant melanosomes in melanocytes 31 HP:0005592
9 adult onset sensorineural hearing impairment 31 HP:0008615
10 albinism 31 HP:0001022
11 depigmented fundus 31 HP:0007680

Symptoms via clinical synopsis from OMIM:

56
Eyes:
nystagmus
photophobia
depigmented fundus
impaired vision
albino pupillary reflex
more
Skin:
normal pigmentation

Lab:
macromelanosomes on em

Head:
head nodding

Misc:
mosaic fundal pigmentation in carrier females

Ears:
late onset sensorineural deafness

Clinical features from OMIM:

300650

GenomeRNAi Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.86 DDB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.86 AKT2 CTNNB1 DDB1 SMAD2 SMAD4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.86 DDB1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.86 DDB1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.86 SMAD2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.86 CTNNB1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.86 SMAD4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.86 SMAD2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.86 SMAD4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.86 DDB1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.86 AKT2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.86 CTNNB1
13 Increased mitotic index GR00110-A-0 8.92 AKT2 AKT3 SMAD2 SMAD4

MGI Mouse Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
2 growth/size/body region MP:0005378 10.26 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
3 homeostasis/metabolism MP:0005376 10.25 AKT2 AKT3 CTNNB1 EP300 MITF PTCHD3
4 mortality/aging MP:0010768 10.25 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
5 endocrine/exocrine gland MP:0005379 10.24 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
6 immune system MP:0005387 10.19 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
7 craniofacial MP:0005382 10.16 CTNNB1 EP300 MITF SMAD2 SMAD3 SMAD4
8 embryo MP:0005380 10.15 CTNNB1 EP300 MITF SMAD2 SMAD3 SMAD4
9 nervous system MP:0003631 10.15 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
10 integument MP:0010771 10.13 AKT2 CTNNB1 MITF SMAD2 SMAD3 SMAD4
11 neoplasm MP:0002006 10.06 AKT2 AKT3 CTNNB1 EP300 SMAD2 SMAD3
12 normal MP:0002873 10.06 ABR AKT2 AKT3 CTNNB1 EP300 MITF
13 limbs/digits/tail MP:0005371 9.93 CTNNB1 MITF SMAD3 SMAD4 SOX10 TYR
14 reproductive system MP:0005389 9.76 AKT2 AKT3 CTNNB1 MITF SMAD2 SMAD3
15 pigmentation MP:0001186 9.65 CTNNB1 MITF SOX10 TFE3 TYR
16 skeleton MP:0005390 9.56 AKT2 CTNNB1 MITF SMAD2 SMAD3 SMAD4
17 vision/eye MP:0005391 9.23 CTNNB1 DDB1 EP300 MITF SMAD2 SMAD3

Drugs & Therapeutics for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Genetic Tests for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Anatomical Context for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards organs/tissues related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

40
Eye

Publications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

# Title Authors PMID Year
1
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. 56
8288253 1993
2
X-linked inheritance of ocular albinism with late-onset sensorineural deafness. 56
6542750 1984
3
Ocular albinism with sensorineural deafness. 61
15090016 2004

Variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Expression for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Search GEO for disease gene expression data for Albinism, Ocular, with Late-Onset Sensorineural Deafness.

Pathways for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Pathways related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 SOX10 SMAD4 SMAD3 SMAD2 EP300 CTNNB1
2
Show member pathways
13.68 SMAD4 SMAD3 SMAD2 HLA-A EP300 CTNNB1
3
Show member pathways
13.47 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
4
Show member pathways
13.05 SMAD4 SMAD3 SMAD2 EP300 DDB1 CTNNB1
5
Show member pathways
12.96 HLA-A EP300 CTNNB1 AKT3 AKT2
6
Show member pathways
12.93 HLA-A EP300 DDB1 CTNNB1 AKT3 AKT2
7
Show member pathways
12.84 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
8
Show member pathways
12.77 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
9
Show member pathways
12.59 TFE3 EP300 AKT3 AKT2
10 12.58 SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
11
Show member pathways
12.55 SMAD3 EP300 CTNNB1 AKT3 AKT2
12
Show member pathways
12.51 SMAD4 SMAD3 EP300 CTNNB1
13
Show member pathways
12.5 SMAD4 SMAD3 SMAD2 CTNNB1
14
Show member pathways
12.42 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
15 12.36 SMAD4 SMAD3 SMAD2 EP300
16
Show member pathways
12.34 SMAD4 SMAD3 SMAD2 EP300
17 12.3 SMAD2 CTNNB1 AKT3 AKT2
18 12.24 SMAD4 SMAD3 SMAD2 CTNNB1
19
Show member pathways
12.24 SMAD3 SMAD2 AKT3 AKT2
20 12.19 SMAD4 SMAD3 SMAD2 CTNNB1
21 12.18 SMAD3 SMAD2 HLA-A AKT3 AKT2
22 12.15 SMAD4 SMAD2 EP300 CTNNB1
23 12.15 SMAD4 SMAD3 SMAD2 CTNNB1
24
Show member pathways
12.12 SMAD3 EP300 CTNNB1 AKT3 AKT2
25 12.08 SMAD4 SMAD3 SMAD2 EP300
26
Show member pathways
12.07 SMAD4 SMAD3 EP300 AKT3 AKT2
27 12.06 SMAD4 SMAD3 SMAD2 AKT3 AKT2
28
Show member pathways
12.03 SMAD4 SMAD3 SMAD2
29 12.02 MITF AKT3 AKT2
30 12.02 EP300 CTNNB1 AKT3 AKT2
31
Show member pathways
12 CTNNB1 AKT3 AKT2
32 12 CTNNB1 AKT3 AKT2
33 11.95 CTNNB1 AKT3 AKT2
34 11.94 EP300 AKT3 AKT2
35 11.92 EP300 AKT3 AKT2
36 11.92 SMAD4 SMAD3 CTNNB1 AKT3 AKT2
37 11.91 SMAD4 SMAD3 SMAD2 EP300
38 11.9 SOX10 MITF CTNNB1
39 11.89 SMAD4 SMAD3 EP300 CTNNB1
40
Show member pathways
11.85 SMAD4 SMAD3 SMAD2
41 11.84 SMAD4 SMAD3 SMAD2 HLA-A EP300 AKT3
42 11.83 SMAD4 SMAD3 SMAD2 AKT3 AKT2
43
Show member pathways
11.8 EP300 AKT3 AKT2
44 11.79 SMAD4 SMAD3 EP300
45 11.78 MITF EP300 CTNNB1
46 11.78 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
47
Show member pathways
11.76 SMAD4 SMAD3 SMAD2
48 11.76 SMAD4 SMAD3 SMAD2 EP300
49 11.75 SMAD4 SMAD3 SMAD2 AKT3 AKT2
50 11.74 SMAD4 SMAD3 EP300 CTNNB1

GO Terms for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Cellular components related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.21 TYR TFE3 SOX10 SMAD4 SMAD3 SMAD2
2 nucleoplasm GO:0005654 10.1 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
3 nuclear chromatin GO:0000790 9.85 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
4 transcription factor complex GO:0005667 9.55 SMAD4 SMAD3 SMAD2 EP300 CTNNB1
5 protein-containing complex GO:0032991 9.5 SMAD3 SMAD2 MITF EP300 DDB1 CTNNB1
6 postsynaptic density, intracellular component GO:0099092 9.46 CTNNB1 ABR
7 activin responsive factor complex GO:0032444 9.32 SMAD4 SMAD2
8 heteromeric SMAD protein complex GO:0071144 9.26 SMAD3 SMAD2
9 SMAD protein complex GO:0071141 8.8 SMAD4 SMAD3 SMAD2

Biological processes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.18 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
2 regulation of transcription by RNA polymerase II GO:0006357 10.08 SOX10 SMAD4 SMAD3 MITF EP300 CTNNB1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.07 SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
5 negative regulation of apoptotic process GO:0043066 9.99 SOX10 SMAD3 MITF DDB1 CTNNB1 AKT2
6 intracellular signal transduction GO:0035556 9.97 SMAD4 SMAD2 AKT3 AKT2 ABR
7 positive regulation of gene expression GO:0010628 9.95 SOX10 SMAD3 SMAD2 MITF EP300 CTNNB1
8 protein deubiquitination GO:0016579 9.93 SMAD4 SMAD3 SMAD2 EP300
9 in utero embryonic development GO:0001701 9.85 SOX10 SMAD4 SMAD3 SMAD2 CTNNB1
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.83 SMAD3 EP300 CTNNB1
11 transforming growth factor beta receptor signaling pathway GO:0007179 9.82 SMAD4 SMAD3 SMAD2
12 lung development GO:0030324 9.82 SMAD2 EP300 CTNNB1
13 SMAD protein signal transduction GO:0060395 9.76 SMAD4 SMAD3 SMAD2
14 gastrulation GO:0007369 9.72 SMAD4 SMAD3 SMAD2
15 endoderm development GO:0007492 9.71 SMAD4 SMAD3 SMAD2
16 signal transduction involved in regulation of gene expression GO:0023019 9.67 SMAD3 SMAD2
17 gastrulation with mouth forming second GO:0001702 9.67 SMAD4 CTNNB1
18 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.67 SMAD4 SMAD3 SMAD2
19 activin receptor signaling pathway GO:0032924 9.66 SMAD3 SMAD2
20 positive regulation of histone H3-K4 methylation GO:0051571 9.66 SMAD4 CTNNB1
21 secondary palate development GO:0062009 9.65 SMAD4 SMAD2
22 nodal signaling pathway GO:0038092 9.63 SMAD3 SMAD2
23 endoderm formation GO:0001706 9.62 SMAD2 CTNNB1
24 pericardium development GO:0060039 9.62 SMAD3 SMAD2
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD4 SMAD3 SMAD2 CTNNB1
26 primary miRNA processing GO:0031053 9.61 SMAD3 SMAD2
27 positive regulation of DNA-templated transcription, initiation GO:2000144 9.61 MITF CTNNB1
28 regulation of osteoclast differentiation GO:0045670 9.58 TFE3 MITF CTNNB1
29 regulation of transforming growth factor beta2 production GO:0032909 9.57 SMAD4 SMAD3
30 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.56 MITF CTNNB1
31 embryonic foregut morphogenesis GO:0048617 9.54 SMAD3 SMAD2 CTNNB1
32 paraxial mesoderm morphogenesis GO:0048340 9.52 SMAD3 SMAD2
33 developmental growth GO:0048589 9.46 SOX10 SMAD4 SMAD3 SMAD2
34 SMAD protein complex assembly GO:0007183 9.43 SMAD4 SMAD3 SMAD2
35 positive regulation of transcription, DNA-templated GO:0045893 9.23 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
36 regulation of binding GO:0051098 9.13 SMAD4 SMAD3 SMAD2

Molecular functions related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.16 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.01 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
3 DNA-binding transcription factor activity GO:0003700 9.91 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
4 transcription regulatory region DNA binding GO:0044212 9.83 TFE3 SOX10 SMAD4 SMAD3
5 transcription factor binding GO:0008134 9.8 SOX10 SMAD3 SMAD2 EP300 CTNNB1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
7 transcription coregulator activity GO:0003712 9.72 SMAD4 SMAD3 EP300
8 RNA polymerase II transcription factor binding GO:0001085 9.67 SMAD4 EP300 CTNNB1
9 RNA polymerase II activating transcription factor binding GO:0001102 9.65 SMAD3 EP300 CTNNB1
10 SMAD binding GO:0046332 9.61 SMAD3 SMAD2 CTNNB1
11 enhancer binding GO:0035326 9.58 SMAD3 SMAD2
12 co-SMAD binding GO:0070410 9.57 SMAD3 SMAD2
13 primary miRNA binding GO:0070878 9.51 SMAD3 SMAD2
14 R-SMAD binding GO:0070412 9.5 SMAD4 SMAD3 SMAD2
15 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
16 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.46 SMAD3 SMAD2
17 I-SMAD binding GO:0070411 9.33 SMAD4 SMAD2 CTNNB1
18 chromatin binding GO:0003682 9.17 SOX10 SMAD4 SMAD3 SMAD2 MITF EP300

Sources for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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
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