OASD
MCID: ALB025
MIFTS: 49

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal 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
Albinism, Ocular, with Sensorineural Deafness 29 6 39 71
Ocular Albinism with Late-Onset Sensorineural Deafness 58 29
Deafness and Ocular Albinism 56 52
Ws2-Oa 12 73
Oasd 56 52
Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism 12
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 73
Ocular Albinism with Late-Onset Sensorineural Hearing Loss 58
Albinism Ocular Late Onset Sensorineural Deafness 52
Waardenburg Syndrome/ocular Albinism, Digenic 29
Digenic Waardenburg Syndrome/ocular Albinism 12
Albinism Ocular with Sensorineural Deafness 73
Waardenburg Syndrome/albinism, Digenic 29
Digenic Waardenburg Syndrome/albinism 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
MeSH 43 D014849
ICD10 32 E70.3
MESH via Orphanet 44 C537043
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1845069
Orphanet 58 ORPHA1000
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 ocular albinism and epithelioid cell melanoma. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and visual 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.

UniProtKB/Swiss-Prot : 73 Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

More information from OMIM: 300650

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

Diseases in the Ocular Albinism with Congenital 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 top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 ocular albinism 32.4 TYR OASD MITF
2 epithelioid cell melanoma 10.4 TYR MITF
3 waardenburg syndrome type 4 10.4 SOX10 MITF
4 waardenburg syndrome, type 2b 10.4 SOX10 MITF
5 ochronosis 10.4 TYR MITF
6 gallbladder melanoma 10.3 SOX10 MITF
7 ocular albinism with congenital sensorineural deafness 10.3 TYR PAX3 MITF
8 dowling-degos disease 1 10.3 TYR MITF
9 waardenburg syndrome, type 2c 10.3 SOX10 PAX3 MITF
10 waardenburg syndrome, type 4c 10.3 SOX10 PAX3 MITF
11 waardenburg syndrome, type 2d 10.3 SOX10 PAX3 MITF
12 clear cell papillary renal cell carcinoma 10.3 TFE3 MITF
13 malignant spindle cell melanoma 10.3 TYR SOX10 MITF
14 childhood kidney cell carcinoma 10.2 TFE3 MITF
15 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 SOX10 PAX3 MITF
16 waardenburg syndrome, type 3 10.2 SOX10 PAX3 MITF
17 waardenburg syndrome, type 4a 10.2 SOX10 PAX3 MITF
18 waardenburg syndrome, type 1 10.2 SOX10 PAX3 MITF
19 melanoma in congenital melanocytic nevus 10.2 TYR SOX10 MITF
20 uterus perivascular epithelioid cell tumor 10.2 TFE3 MITF
21 megacolon 10.2 SOX10 PAX3 MITF
22 neurilemmoma 10.2 TYR SOX10 MITF
23 neurofibroma 10.2 TYR SOX10 MITF
24 malignant choroid melanoma 10.2 SOX10 MITF
25 branchiootic syndrome 1 10.2
26 albinism 10.2
27 heritable thoracic aortic disease 10.1 SMAD4 SMAD3
28 hypomelanosis of ito 10.1 TYR MITF AKT3
29 angiomyolipoma 10.1 TYR TFE3 MITF
30 rare genetic deafness 10.1 SOX10 PAX3 MITF
31 waardenburg syndrome, type 2e 10.1 TYR SOX10 PAX3 MITF
32 waardenburg syndrome, type 4b 10.1 TYR SOX10 PAX3 MITF
33 tietz albinism-deafness syndrome 10.1 TYR SOX10 PAX3 MITF
34 piebald trait 10.1 TYR SOX10 PAX3 MITF
35 clear cell sarcoma 10.1 TFE3 SOX10 MITF
36 charge syndrome 10.1 SOX10 PAX3 EP300
37 loeys-dietz syndrome 5 10.1 SMAD3 SMAD2
38 waardenburg syndrome, type 2a 10.0 TFE3 SOX10 PAX3 MITF
39 nephrogenic systemic fibrosis 9.9 SMAD4 SMAD3 SMAD2
40 small intestine adenocarcinoma 9.9 SMAD4 CTNNB1
41 loeys-dietz syndrome 3 9.9 SMAD4 SMAD3 SMAD2
42 loeys-dietz syndrome 9.9 SMAD4 SMAD3 SMAD2
43 clear cell adenocarcinoma 9.9 SMAD4 SMAD3 SMAD2
44 spinal muscular atrophy, type ii 9.9 SMAD4 SMAD3 SMAD2
45 large intestine adenocarcinoma 9.9 SMAD4 CTNNB1
46 actinic keratosis 9.9 TYR SOX10 MITF CTNNB1
47 aortic aneurysm, familial thoracic 1 9.9 SMAD4 SMAD3 SMAD2
48 hypertrophic scars 9.8 SMAD3 SMAD2
49 waardenburg's syndrome 9.8 TYR TFE3 SOX10 PAX3 MITF
50 conventional fibrosarcoma 9.7 PAX3 CTNNB1

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 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
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:
photophobia
nystagmus
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 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.74 DDB1 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.74 DDB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 SMAD2 SMAD4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.74 AKT2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.74 DDB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.74 DDB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.74 AKT2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.74 SMAD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.74 SMAD2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.74 SMAD4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.74 SMAD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.74 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.74 SMAD4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.74 DDB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 SMAD2 SMAD4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.74 AKT2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.74 AKT2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 SMAD4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 CTNNB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.74 AKT2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 DDB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 AKT2

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

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
2 behavior/neurological MP:0005386 10.35 ABR AKT3 CTNNB1 HLA-A MITF PAX3
3 endocrine/exocrine gland MP:0005379 10.35 AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
4 growth/size/body region MP:0005378 10.34 AKT2 AKT3 CTNNB1 EP300 MITF PAX3
5 mortality/aging MP:0010768 10.33 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
6 homeostasis/metabolism MP:0005376 10.31 AKT2 AKT3 CTNNB1 EP300 MITF PAX3
7 immune system MP:0005387 10.3 AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
8 hematopoietic system MP:0005397 10.29 AKT2 AKT3 CTNNB1 EP300 HLA-A MITF
9 cardiovascular system MP:0005385 10.26 AKT3 CTNNB1 DDB1 EP300 PAX3 SMAD2
10 nervous system MP:0003631 10.25 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
11 craniofacial MP:0005382 10.24 CTNNB1 EP300 MITF PAX3 SMAD2 SMAD3
12 embryo MP:0005380 10.23 CTNNB1 EP300 MITF PAX3 SMAD2 SMAD3
13 integument MP:0010771 10.21 AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
14 digestive/alimentary MP:0005381 10.13 CTNNB1 EP300 PAX3 SMAD2 SMAD3 SMAD4
15 neoplasm MP:0002006 10.13 AKT2 AKT3 CTNNB1 EP300 PAX3 SMAD2
16 normal MP:0002873 10.1 ABR AKT2 AKT3 CTNNB1 EP300 MITF
17 limbs/digits/tail MP:0005371 10.04 CTNNB1 MITF PAX3 SMAD3 SMAD4 SOX10
18 liver/biliary system MP:0005370 10.02 AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
19 no phenotypic analysis MP:0003012 9.97 AKT2 CTNNB1 HLA-A MITF PAX3 SMAD2
20 pigmentation MP:0001186 9.73 CTNNB1 MITF PAX3 SOX10 TFE3 TYR
21 renal/urinary system MP:0005367 9.7 CTNNB1 EP300 MITF PAX3 SMAD3 SMAD4
22 skeleton MP:0005390 9.61 AKT2 CTNNB1 MITF PAX3 SMAD2 SMAD3
23 vision/eye MP:0005391 9.28 CTNNB1 DDB1 EP300 MITF PAX3 SMAD2

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

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

# Genetic test Affiliating Genes
1 Albinism, Ocular, with Sensorineural Deafness 29
2 Waardenburg Syndrome/albinism, Digenic 29
3 Waardenburg Syndrome/ocular Albinism, Digenic 29
4 Ocular Albinism with Late-Onset Sensorineural Deafness 29

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

ClinVar genetic disease variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX3 NM_181458.4(PAX3):c.748dup (p.Glu250fs)duplication Pathogenic 694721 2:223096840-223096841 2:222232121-222232122
2 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)SNV Pathogenic 3774 rs61754388 11:88961072-88961072 11:89227904-89227904
3 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)SNV Pathogenic 3775 rs121908011 11:88961101-88961101 11:89227933-89227933
4 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
5 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)SNV Pathogenic 3790 rs28940879 11:88911285-88911285 11:89178117-89178117
6 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter)SNV Pathogenic 99565 rs61753256 11:88911467-88911467 11:89178299-89178299
7 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter)SNV Pathogenic 99583 rs62645904 11:88924382-88924382 11:89191214-89191214
8 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp)SNV Pathogenic/Likely pathogenic 3794 rs61753180 11:88911261-88911261 11:89178093-89178093
9 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
10 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)SNV Pathogenic/Likely pathogenic 99541 rs62645916 11:89017955-89017955 11:89284787-89284787
11 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)SNV Pathogenic/Likely pathogenic 3777 rs104894313 11:89017973-89017973 11:89284805-89284805
12 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe)SNV Pathogenic/Likely pathogenic 3773 rs104894314 11:88924373-88924373 11:89191205-89191205
13 TYR NM_000372.5(TYR):c.649C>T (p.Arg217Trp)SNV Likely pathogenic 3795 rs63159160 11:88911770-88911770 11:89178602-89178602
14 TYR NM_000372.5(TYR):c.915C>A (p.Asp305Glu)SNV Conflicting interpretations of pathogenicity 418532 rs142170797 11:88924465-88924465 11:89191297-89191297
15 TYR NM_000372.5(TYR):c.1366+4A>GSNV Uncertain significance 99548 rs61754398 11:89018126-89018126 11:89284958-89284958

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
13.8 SOX10 SMAD4 SMAD3 SMAD2 EP300 CTNNB1
2
Show member pathways
13.69 SMAD4 SMAD3 SMAD2 HLA-A EP300 CTNNB1
3
Show member pathways
13.48 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
4
Show member pathways
12.97 HLA-A EP300 CTNNB1 AKT3 AKT2
5
Show member pathways
12.97 SMAD4 SMAD3 SMAD2 EP300 DDB1 CTNNB1
6
Show member pathways
12.95 HLA-A EP300 DDB1 CTNNB1 AKT3 AKT2
7
Show member pathways
12.86 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
8
Show member pathways
12.78 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
12.57 SMAD3 EP300 CTNNB1 AKT3 AKT2
12
Show member pathways
12.54 SMAD4 SMAD3 SMAD2 PAX3 CTNNB1
13
Show member pathways
12.48 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
14
Show member pathways
12.45 SMAD4 SMAD3 EP300 CTNNB1
15
Show member pathways
12.45 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
16 12.36 SMAD4 SMAD3 SMAD2 EP300
17
Show member pathways
12.35 SMAD4 SMAD3 SMAD2 EP300
18
Show member pathways
12.34 SMAD3 EP300 CTNNB1 AKT3 AKT2
19 12.31 SMAD2 CTNNB1 AKT3 AKT2
20 12.26 SMAD4 SMAD3 SMAD2 PAX3 CTNNB1
21 12.2 SMAD4 SMAD3 SMAD2 CTNNB1
22 12.18 SMAD4 SMAD3 SMAD2 CTNNB1
23 12.17 SMAD3 SMAD2 HLA-A AKT3 AKT2
24 12.16 SMAD4 SMAD2 EP300 CTNNB1
25 12.09 SMAD4 SMAD3 SMAD2 EP300
26
Show member pathways
12.09 SMAD4 SMAD3 EP300 AKT3 AKT2
27 12.08 SMAD4 SMAD3 SMAD2 AKT3 AKT2
28 12.04 EP300 CTNNB1 AKT3 AKT2
29
Show member pathways
12.01 CTNNB1 AKT3 AKT2
30 12 CTNNB1 AKT3 AKT2
31 11.96 SOX10 PAX3 MITF CTNNB1
32 11.95 CTNNB1 AKT3 AKT2
33 11.94 EP300 AKT3 AKT2
34 11.92 EP300 AKT3 AKT2
35 11.92 SMAD4 SMAD3 SMAD2 EP300
36 11.92 SMAD4 SMAD3 CTNNB1 AKT3 AKT2
37 11.9 SMAD4 SMAD3 EP300 CTNNB1
38
Show member pathways
11.86 SMAD4 SMAD3 SMAD2
39
Show member pathways
11.85 SMAD4 SMAD3 SMAD2
40 11.84 SMAD4 SMAD3 SMAD2 HLA-A EP300 AKT3
41 11.83 SMAD4 SMAD3 SMAD2 AKT3 AKT2
42
Show member pathways
11.8 EP300 AKT3 AKT2
43 11.8 SMAD4 SMAD3 EP300
44 11.79 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
45 11.78 MITF EP300 CTNNB1
46
Show member pathways
11.77 SMAD4 SMAD3 SMAD2
47 11.77 SMAD4 SMAD3 SMAD2 EP300
48 11.76 SMAD4 SMAD3 EP300 CTNNB1
49 11.75 SMAD4 SMAD3 SMAD2 AKT3 AKT2
50
Show member pathways
11.73 SMAD4 SMAD3 SMAD2

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 10.25 TYR TFE3 SOX10 SMAD4 SMAD3 SMAD2
2 nucleoplasm GO:0005654 10.14 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
3 nuclear chromatin GO:0000790 9.87 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
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 9.37 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 35)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.18 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
2 regulation of transcription by RNA polymerase II GO:0006357 10.09 SOX10 SMAD4 SMAD3 MITF EP300 CTNNB1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 SOX10 SMAD4 SMAD3 SMAD2 MITF EP300
4 negative regulation of apoptotic process GO:0043066 10.01 SOX10 SMAD3 MITF DDB1 CTNNB1 AKT2
5 intracellular signal transduction GO:0035556 10 SMAD4 SMAD2 AKT3 AKT2 ABR
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
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 9.83 SMAD4 SMAD3 SMAD2
12 lung development GO:0030324 9.81 SMAD2 EP300 CTNNB1
13 SMAD protein signal transduction GO:0060395 9.77 SMAD4 SMAD3 SMAD2
14 gastrulation GO:0007369 9.73 SMAD4 SMAD3 SMAD2
15 endoderm development GO:0007492 9.72 SMAD4 SMAD3 SMAD2
16 activin receptor signaling pathway GO:0032924 9.67 SMAD3 SMAD2
17 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.67 SMAD4 SMAD3 SMAD2
18 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 SMAD4 SMAD3 SMAD2 CTNNB1
19 gastrulation with mouth forming second GO:0001702 9.66 SMAD4 CTNNB1
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 endoderm formation GO:0001706 9.64 SMAD2 CTNNB1
23 nodal signaling pathway GO:0038092 9.63 SMAD3 SMAD2
24 primary miRNA processing GO:0031053 9.62 SMAD3 SMAD2
25 pericardium development GO:0060039 9.62 SMAD3 SMAD2
26 positive regulation of DNA-templated transcription, initiation GO:2000144 9.61 MITF CTNNB1
27 regulation of osteoclast differentiation GO:0045670 9.61 TFE3 MITF CTNNB1
28 regulation of transforming growth factor beta2 production GO:0032909 9.58 SMAD4 SMAD3
29 embryonic foregut morphogenesis GO:0048617 9.58 SMAD3 SMAD2 CTNNB1
30 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.57 MITF CTNNB1
31 paraxial mesoderm morphogenesis GO:0048340 9.52 SMAD3 SMAD2
32 developmental growth GO:0048589 9.46 SOX10 SMAD4 SMAD3 SMAD2
33 SMAD protein complex assembly GO:0007183 9.43 SMAD4 SMAD3 SMAD2
34 positive regulation of transcription, DNA-templated GO:0045893 9.28 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
35 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 22)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.98 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.88 TFE3 SOX10 SMAD4 SMAD3
4 transcription regulatory region DNA binding GO:0044212 9.85 TFE3 SOX10 SMAD4 SMAD3
5 transcription factor binding GO:0008134 9.85 SOX10 SMAD3 SMAD2 EP300 CTNNB1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.85 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TFE3 SOX10 SMAD4 SMAD3 SMAD2 MITF
8 transcription coregulator activity GO:0003712 9.78 SMAD4 SMAD3 EP300
9 DNA-binding transcription factor activity GO:0003700 9.76 TFE3 SOX10 SMAD4 SMAD3 SMAD2 PAX3
10 beta-catenin binding GO:0008013 9.74 SMAD3 EP300 CTNNB1
11 RNA polymerase II transcription factor binding GO:0001085 9.71 SMAD4 EP300 CTNNB1
12 RNA polymerase II activating transcription factor binding GO:0001102 9.7 SMAD3 EP300 CTNNB1
13 SMAD binding GO:0046332 9.69 SMAD3 SMAD2 CTNNB1
14 proximal promoter sequence-specific DNA binding GO:0000987 9.62 SOX10 SMAD4 SMAD3 SMAD2
15 transforming growth factor beta receptor binding GO:0005160 9.6 SMAD3 SMAD2
16 enhancer binding GO:0035326 9.59 SMAD3 SMAD2
17 co-SMAD binding GO:0070410 9.58 SMAD3 SMAD2
18 R-SMAD binding GO:0070412 9.58 SMAD4 SMAD3 SMAD2
19 primary miRNA binding GO:0070878 9.56 SMAD3 SMAD2
20 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.49 SMAD3 SMAD2
21 chromatin binding GO:0003682 9.17 SOX10 SMAD4 SMAD3 SMAD2 MITF EP300
22 I-SMAD binding GO:0070411 9.13 SMAD4 SMAD2 CTNNB1

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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