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MCID: BRN006
MIFTS: 45

Branchiootorenal Syndrome

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Branchiootorenal Syndrome

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MalaCards integrated aliases for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 12 52 58 15
Branchio-Oto-Renal Syndrome 12 74 36 43 71
Bor Syndrome 52 58 54
Branchiootorenal Dysplasia 12 52
Melnick-Fraser Syndrome 12 52
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 52
Branchiootorenal Syndrome 29

Characteristics:

Orphanet epidemiological data:

58
bor syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14702
KEGG 36 H00453
MeSH 43 D019280
NCIt 49 C98983
SNOMED-CT 67 290006
MESH via Orphanet 44 D019280
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0265234
Orphanet 58 ORPHA107
UMLS 71 C0265234
Sources

Summaries for Branchiootorenal Syndrome

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NIH Rare Diseases : 52 Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss , and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes . It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist ). In some cases dialysis or kidney transplant may be required.

MalaCards based summary : Branchiootorenal Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome 1 and branchiootorenal syndrome 2. An important gene associated with Branchiootorenal Syndrome is SIX5 (SIX Homeobox 5). Affiliated tissues include kidney, eye and bone, and related phenotypes are hearing impairment and external ear malformation

Disease Ontology : 12 A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.

KEGG : 36 Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Indivisuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.

Wikipedia : 74 Branchio-oto-renal syndrome (BOR) , is an autosomal dominant genetic disorder involving the kidneys,... more...

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Related Diseases for Branchiootorenal Syndrome

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Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1 34.8 SIX1 EYA1
2 branchiootorenal syndrome 2 34.7 SIX5 LOC107075317 DM1-AS
3 cakut 32.6 SIX5 SIX2 SIX1 SALL1 PAX2 FRAS1
4 branchiootorenal spectrum disorder 32.1 SIX5 SIX1 EYA1
5 oligomeganephronia 31.5 PAX2 EYA1
6 ear malformation 31.5 GJB2 EYA1
7 renal hypoplasia 31.3 SIX2 SIX1 SALL1 PAX2 EYA1
8 hemifacial microsomia 31.2 SALL1 OTX2 HOXA2
9 fraser syndrome 1 31.2 SIX2 SIX1 SALL1 PAX2 FRAS1 EYA1
10 renal hypodysplasia/aplasia 1 31.1 SIX2 SIX1 SALL1 PAX2 FRAS1 EYA1
11 deafness, autosomal dominant 23 31.1 SIX1 EYA1
12 deafness, autosomal dominant 10 31.1 SIX1 EYA4 EYA1
13 autosomal dominant non-syndromic sensorineural deafness type dfna 31.0 SIX1 GJB2 EYA4
14 branchiooculofacial syndrome 30.9 SALL1 EYA1
15 complex chromosomal rearrangement 30.8 SIX6 SIX1 OTX2
16 townes-brocks syndrome 30.1 THAP5 SIX5 SIX2 SIX1 SALL1 PAX2
17 branchiootic syndrome 29.0 THAP5 SIX6 SIX5 SIX4 SIX2 SIX1
18 branchiootic syndrome 3 11.6
19 branchiootic syndrome 1 11.4
20 branchiootorenal/branchiootic syndrome 11.2
21 renal dysplasia 10.6
22 branchial cleft anomalies 10.6
23 sensorineural hearing loss 10.6
24 end stage renal failure 10.5
25 branchial arch defects 10.5
26 lacrimal duct obstruction 10.5 SIX5 SIX1 EYA1
27 cardiomyopathy, dilated, 1j 10.5 EYA4 EYA1
28 cleft palate, isolated 10.4
29 cholesteatoma of middle ear 10.4
30 myotonic dystrophy 10.4 SIX5 LOC107075317 DM1-AS
31 aniridia 1 10.4 PAX2 OTX2 EYA1
32 kidney disease 10.3
33 townes-brocks syndrome 1 10.3
34 stickler syndrome, type i 10.3
35 gastroesophageal reflux 10.3
36 commissural lip pits 10.3
37 branchiootic syndrome 2 10.3
38 otitis media 10.3
39 otofaciocervical syndrome 1 10.3
40 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
41 orthostatic intolerance 10.3
42 patent ductus arteriosus 1 10.3
43 metabolic acidosis 10.3
44 benign teratoma 10.3
45 spastic diplegia 10.3
46 alport syndrome 10.3
47 hydronephrosis 10.3
48 myopia 10.3
49 oligohydramnios 10.3
50 male infertility 10.3

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome:



Diseases related to Branchiootorenal Syndrome
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Symptoms & Phenotypes for Branchiootorenal Syndrome

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Human phenotypes related to Branchiootorenal Syndrome:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
3 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
4 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
5 enlarged cochlear aqueduct 58 31 frequent (33%) Frequent (79-30%) HP:0011388
6 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
7 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
8 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
9 hypoplasia of the cochlea 58 31 frequent (33%) Frequent (79-30%) HP:0008586
10 branchial cyst 58 31 frequent (33%) Frequent (79-30%) HP:0009796
11 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
12 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
13 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
14 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
15 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
16 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
17 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
18 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
19 abnormal lacrimal duct morphology 31 occasional (7.5%) HP:0011481
20 abnormality of the lacrimal duct 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 EYA1 EYA4 FRAS1 GJB2 HOXA2 OTX2
2 cardiovascular system MP:0005385 10.06 EYA1 FRAS1 GJB2 HOXA2 OTX2 PAX2
3 craniofacial MP:0005382 9.92 EYA1 EYA4 FRAS1 GJB2 HOXA2 OTX2
4 digestive/alimentary MP:0005381 9.86 EYA1 EYA4 FRAS1 HOXA2 OTX2 SALL1
5 embryo MP:0005380 9.81 EYA1 EYA4 GJB2 HOXA2 OTX2 PAX2
6 hearing/vestibular/ear MP:0005377 9.61 EYA1 EYA4 GJB2 HOXA2 OTX2 PAX2
7 vision/eye MP:0005391 9.28 EYA1 FRAS1 GJB2 OTX2 PAX2 SIX1
Sources

Drugs & Therapeutics for Branchiootorenal Syndrome

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Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome

Cochrane evidence based reviews: branchio-oto-renal syndrome

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Genetic Tests for Branchiootorenal Syndrome

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Genetic tests related to Branchiootorenal Syndrome:

# Genetic test Affiliating Genes
1 Branchiootorenal (bor) Syndrome 29
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Anatomical Context for Branchiootorenal Syndrome

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MalaCards organs/tissues related to Branchiootorenal Syndrome:

40
Kidney, Eye, Bone, Skin, Testes, Smooth Muscle, Salivary Gland
Sources

Publications for Branchiootorenal Syndrome

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Articles related to Branchiootorenal Syndrome:

(show top 50) (show all 196)
# Title Authors PMID Year
1
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. 54 61 6
19206155 2009
2
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 54 61 6
9603436 1998
3
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 61 6
21280147 2011
4
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 54 6
18177466 2008
5
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 61 6
17357085 2007
6
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 54 6
9361030 1997
7
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 61 6
10464653 1997
8
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6
16691597 2006
9
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 6
10991693 2000
10
Branchiootorenal Spectrum Disorder 6
20301554 1999
11
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 6
9020840 1997
12
Familial hearing loss associated with branchial fistulas. 6
5365063 1969
13
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. 54 61
20130917 2010
14
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 54 61
19951260 2010
15
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 54 61
19497856 2009
16
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. 54 61
19389353 2009
17
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. 54 61
19215039 2009
18
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. 54 61
19667416 2009
19
Differential expression of Eya1 and Eya2 during chick early embryonic development. 54 61
18316249 2008
20
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 54 61
18220287 2008
21
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 54 61
18330911 2008
22
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 54 61
17637804 2007
23
Branchio-oto-renal syndrome. 54 61
17238186 2007
24
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. 54 61
17049623 2007
25
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. 54 61
17364338 2007
26
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 54 61
16971658 2006
27
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. 54 61
16797546 2006
28
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. 54 61
17419499 2006
29
Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. 54 61
15802522 2005
30
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. 54 61
15491396 2004
31
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 54 61
15492887 2004
32
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 54 61
15146463 2004
33
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 54 61
15141091 2004
34
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. 54 61
15684871 2004
35
Branchio-oto-renal syndrome. 54 61
14696767 2003
36
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 54 61
11950062 2002
37
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. 54 61
11465802 2001
38
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 54 61
10767004 2000
39
Branchio-oculo-facial syndrome: case report. 54 61
10418222 1999
40
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. 54 61
10429368 1999
41
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. 61
30908667 2020
42
[Prenatal diagnosis of a case with Branchi-oto-renal syndrome]. 61
31813150 2019
43
[Congenital anomalies of the external ear]. 61
31791458 2019
44
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. 61
31384484 2019
45
[Research progress of congenital preauricular fistula]. 61
31163564 2019
46
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 61
30466636 2019
47
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 61
31379922 2019
48
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. 61
30385470 2018
49
Second branchial cleft anomalies in children: a literature review. 61
30251021 2018
50
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 61
30221713 2018
Sources

Variations for Branchiootorenal Syndrome

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Copy number variations for Branchiootorenal Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 242443 8 72305679 72332204 Deletion EYA1 Branchiootorenal syndrome
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Expression for Branchiootorenal Syndrome

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Search GEO for disease gene expression data for Branchiootorenal Syndrome.
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Pathways for Branchiootorenal Syndrome

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GO Terms for Branchiootorenal Syndrome

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Cellular components related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.35 SIX6 SIX5 SIX4 SIX2 SIX1
2 nuclear chromatin GO:0000790 9.28 THAP5 SIX6 SIX5 SIX4 SIX2 SIX1

Biological processes related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.21 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 SIX5 SIX4 SIX2 SIX1 SALL1 PAX2
3 positive regulation of transcription, DNA-templated GO:0045893 10.12 SIX4 SIX1 SALL1 PAX2 OTX2 EYA1
4 negative regulation of transcription, DNA-templated GO:0045892 10.04 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
5 sensory perception of sound GO:0007605 9.93 SIX1 GJB2 EYA4 EYA1
6 multicellular organism development GO:0007275 9.9 SIX6 SIX5 SIX4 SIX2 SIX1 PAX2
7 anatomical structure morphogenesis GO:0009653 9.88 SIX4 SIX2 EYA4 EYA1
8 kidney development GO:0001822 9.87 SIX2 SIX1 SALL1
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.86 EYA4 EYA2 EYA1
10 pattern specification process GO:0007389 9.84 SIX1 HOXA2 EYA1
11 inner ear development GO:0048839 9.83 SIX1 GJB2 EYA4
12 ureteric bud development GO:0001657 9.81 SIX1 SALL1 EYA1
13 inner ear morphogenesis GO:0042472 9.81 SIX4 SIX1 PAX2 EYA1
14 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.8 EYA4 EYA2 EYA1
15 embryonic cranial skeleton morphogenesis GO:0048701 9.79 SIX4 SIX2 SIX1
16 positive regulation of DNA repair GO:0045739 9.79 EYA4 EYA2 EYA1
17 branching involved in ureteric bud morphogenesis GO:0001658 9.76 SIX1 SALL1 PAX2 EYA1
18 cochlea morphogenesis GO:0090103 9.72 SIX1 PAX2 EYA1
19 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.71 SIX4 SIX1 PAX2
20 pharyngeal system development GO:0060037 9.7 SIX4 SIX1 EYA1
21 cell fate determination GO:0001709 9.69 PAX2 HOXA2
22 neuron fate specification GO:0048665 9.69 SIX1 EYA1
23 regulation of epithelial cell proliferation GO:0050678 9.69 SIX4 SIX1
24 aorta morphogenesis GO:0035909 9.68 SIX1 EYA1
25 generation of neurons GO:0048699 9.68 SIX4 SIX1
26 tongue development GO:0043586 9.68 SIX4 SIX1
27 myoblast migration GO:0051451 9.67 SIX4 SIX1
28 outer ear morphogenesis GO:0042473 9.67 SALL1 EYA1
29 otic vesicle development GO:0071599 9.67 SIX1 EYA1
30 trigeminal ganglion development GO:0061551 9.65 SIX4 SIX1
31 striated muscle tissue development GO:0014706 9.65 EYA2 EYA1
32 regulation of synaptic growth at neuromuscular junction GO:0008582 9.65 SIX4 SIX1
33 embryonic skeletal system morphogenesis GO:0048704 9.65 SIX4 SIX2 SIX1 HOXA2 EYA1
34 positive regulation of ureteric bud formation GO:0072107 9.64 SIX4 SIX1
35 middle ear morphogenesis GO:0042474 9.62 SIX2 SIX1 HOXA2 EYA1
36 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.61 SIX1 EYA1
37 metanephric mesenchyme development GO:0072075 9.61 SIX4 SIX1 PAX2
38 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.6 SIX4 SIX1
39 myotome development GO:0061055 9.59 SIX4 SIX1
40 olfactory placode formation GO:0030910 9.58 SIX4 SIX1
41 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.58 SIX2 SALL1 PAX2
42 fungiform papilla morphogenesis GO:0061197 9.57 SIX4 SIX1
43 histone dephosphorylation GO:0016576 9.54 EYA4 EYA2 EYA1
44 mesodermal cell fate specification GO:0007501 9.26 SIX2 PAX2 EYA2 EYA1
45 anatomical structure development GO:0048856 9.23 SIX6 SIX5 SIX4 SIX2 SIX1 EYA4

Molecular functions related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 THAP5 SIX6 SIX5 SIX4 SIX2 SIX1
2 DNA-binding transcription factor activity GO:0003700 9.87 SIX4 SIX2 SIX1 SALL1 PAX2 OTX2
3 sequence-specific DNA binding GO:0043565 9.85 SIX5 SIX4 SIX2 SIX1 OTX2 HOXA2
4 transcription factor binding GO:0008134 9.73 SIX2 PAX2 EYA4 EYA2
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 SIX5 SIX4 SIX2 SIX1 SALL1 OTX2
6 protein tyrosine phosphatase activity GO:0004725 9.58 EYA4 EYA2 EYA1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.35 SIX6 SIX5 SIX4 SIX2 SIX1
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.32 THAP5 SIX6 SIX5 SIX4 SIX2 SIX1
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Sources for Branchiootorenal Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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