BOR1
MCID: BRN131
MIFTS: 44

Branchiootorenal Syndrome 1 (BOR1)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Syndrome 1

MalaCards integrated aliases for Branchiootorenal Syndrome 1:

Name: Branchiootorenal Syndrome 1 56 12 73 15
Melnick-Fraser Syndrome 56 73 29 6
Bor1 56 12 73
Branchiootorenal Syndrome, with/without Cataract, Type 1 39
Branchiootorenal Syndrome 1, with or Without Cataracts 56
Branchio-Oto-Renal Syndrome Type 1 73
Branchio-Oto-Renal Dysplasia 1 73
Branchiootorenal Dysplasia 1 73
Branchio-Oto-Renal Syndrome 71
Branchiootorenal Dysplasia 56
Bor Syndrome 1 73

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
genetic heterogeneity (bor2, )
onset of hearing loss ranges from childhood to young adulthood
prevalence of 1 in 40,000
allelic disorder to branchiootic syndrome (bos1, ) and otofaciocervical syndrome

Inheritance:
autosomal dominant


HPO:

31
branchiootorenal syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



Summaries for Branchiootorenal Syndrome 1

OMIM : 56 Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). (113650)

MalaCards based summary : Branchiootorenal Syndrome 1, also known as melnick-fraser syndrome, is related to branchiootorenal syndrome 2 and branchiootorenal syndrome. An important gene associated with Branchiootorenal Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, skin and eye, and related phenotypes are microtia and facial palsy

Disease Ontology : 12 A branchiootorenal syndrome that has material basis in heterozygous mutation in EYA1 on chromosome 8q13.3.

UniProtKB/Swiss-Prot : 73 Branchiootorenal syndrome 1: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

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

Related Diseases for Branchiootorenal Syndrome 1

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 1:



Diseases related to Branchiootorenal Syndrome 1

Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Human phenotypes related to Branchiootorenal Syndrome 1:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 microtia 31 very rare (1%) HP:0008551
2 facial palsy 31 very rare (1%) HP:0010628
3 stenosis of the external auditory canal 31 very rare (1%) HP:0000402
4 preauricular pit 31 very rare (1%) HP:0004467
5 cupped ear 31 very rare (1%) HP:0000378
6 mixed hearing impairment 31 very rare (1%) HP:0000410
7 lacrimal duct aplasia 31 very rare (1%) HP:0007925
8 lacrimal duct stenosis 31 very rare (1%) HP:0007678
9 microdontia 31 HP:0000691
10 high palate 31 HP:0000218
11 congenital hip dislocation 31 HP:0001374
12 narrow face 31 HP:0000275
13 vesicoureteral reflux 31 HP:0000076
14 preauricular skin tag 31 HP:0000384
15 lacrimation abnormality 31 HP:0000632
16 long face 31 HP:0000276
17 polycystic kidney dysplasia 31 HP:0000113
18 intestinal malrotation 31 HP:0002566
19 hypoplasia of the cochlea 31 HP:0008586
20 branchial cyst 31 HP:0009796
21 branchial fistula 31 HP:0009795
22 bifid uvula 31 HP:0000193
23 renal agenesis 31 HP:0000104
24 renal malrotation 31 HP:0004712
25 renal dysplasia 31 HP:0000110
26 dilatated internal auditory canal 31 HP:0004458
27 renal steatosis 31 HP:0000799
28 abnormal cerebral morphology 31 HP:0002060
29 euthyroid goiter 31 HP:0009798
30 overbite 31 HP:0011094
31 cholesteatoma 31 HP:0009797
32 incomplete partition of the cochlea type ii 31 HP:0000376
33 abnormal renal collecting system morphology 31 HP:0004742
34 gustatory lacrimation 31 HP:0100274

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
bifid uvula
overbite
gustatory lacrimation
high, arched palate

Head And Neck Face:
long, narrow face
facial nerve paralysis (10% of patients)

Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients)

Genitourinary Ureters:
vesicoureteric reflux

Head And Neck Ears:
cochlear malformation
hearing loss (95% of patients)
sensorineural hearing loss (20% of patients)
conductive hearing loss (30% of patients)
mixed hearing loss (50% of patients)
more
Head And Neck Eyes:
lacrimal duct aplasia or stenosis (25% of patients)

Genitourinary Kidneys:
renal anomalies (67% of patients)
renal dysplasia/aplasia
renal collecting system anomalies
polycystic kidneys
abnormal rotation of the kidneys

Clinical features from OMIM:

113650

Drugs & Therapeutics for Branchiootorenal Syndrome 1

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 1

Genetic Tests for Branchiootorenal Syndrome 1

Genetic tests related to Branchiootorenal Syndrome 1:

# Genetic test Affiliating Genes
1 Melnick-Fraser Syndrome 29 EYA1 SIX1

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

40
Kidney, Skin, Eye, Testes

Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

(show top 50) (show all 51)
# 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. 56 6
19206155 2009
2
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 6 56
18177466 2008
3
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 56 6
10991693 2000
4
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 56 6
9020840 1997
5
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. 56
20979191 2010
6
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 56
18220287 2008
7
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6
16691597 2006
8
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 56
15146463 2004
9
Ear and kidney syndromes: molecular versus clinical approach. 56
14717907 2004
10
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. 56
12404110 2002
11
Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. 56
10440824 1999
12
Branchiootorenal Spectrum Disorder 6
20301554 1999
13
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 6
9603436 1998
14
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 6
9361030 1997
15
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 6
10464653 1997
16
Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. 56
8808282 1996
17
Phenotypic manifestations of branchio-oto-renal syndrome. 56
8533848 1995
18
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. 56
7849713 1994
19
Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. 56
8092198 1994
20
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. 56
8092199 1994
21
Localization of the gene for branchiootorenal syndrome to chromosome 8q. 56
1478663 1992
22
A second-generation linkage map of the human genome. 56
1436057 1992
23
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. 56
1307249 1992
24
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. 56
1415348 1992
25
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 56
1576761 1992
26
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 56
2354548 1990
27
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. 56
3799714 1986
28
Branchio-oto-renal dysplasia in three families. 56
3740720 1986
29
Gustatory lacrimation in association with the branchio-oto-renal syndrome. 56
4006277 1985
30
The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. 56
6846397 1983
31
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? 56
6859100 1983
32
Otological aspects of the earpit-deafness syndrome. 56
6973119 1981
33
The earpits-deafness syndrome. Clinical and genetic aspects. 56
6964893 1980
34
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. 56
7468659 1980
35
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. 56
657583 1978
36
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. 56
263442 1978
37
Severe renal dysgenesis produced by a dominant gene. 56
998578 1976
38
Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. 56
1248162 1976
39
Familial hearing loss associated with branchial fistulas. 6
5365063 1969
40
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 61
30221713 2018
41
Branchio-oto-renal syndrome. 61
24848399 2014
42
Branchio-oto-renal syndrome. 61
19263692 2008
43
Quiz page April 2008: deafness, preauricular pits, and renal failure. BOR syndrome or Melnick-Fraser syndrome. 61
18371523 2008
44
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. 61
23120453 2007
45
Noncompaction in Melnick Fraser syndrome. 61
17669095 2007
46
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. 61
17184439 2007
47
Melnick-Fraser syndrome. 61
12466581 2002
48
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). 61
9788564 1998
49
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). 61
9557405 1998
50
Sonographic features of a dysplastic kidney in Melnick-Fraser syndrome. 61
8010234 1994

Variations for Branchiootorenal Syndrome 1

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

6 (show top 50) (show all 66) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYA1 NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)SNV Pathogenic 459253 rs1481254965 8:72123405-72123405 8:71211170-71211170
2 EYA1 NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)SNV Pathogenic 459254 rs200164773 8:72234477-72234477 8:71322242-71322242
3 EYA1 NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)SNV Pathogenic 522400 rs1554615511 8:72181981-72181981 8:71269746-71269746
4 EYA1 NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)SNV Pathogenic 567492 rs1563422304 8:72211426-72211426 8:71299191-71299191
5 EYA1 NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)SNV Pathogenic 807414 8:72211430-72211430 8:71299195-71299195
6 EYA1 NC_000008.11:g.(?_71244583)_(71244712_?)deldeletion Pathogenic 831405 8:72156818-72156947
7 EYA1 NC_000008.11:g.(?_71269720)_(71269843_?)deldeletion Pathogenic 831168 8:72181955-72182078
8 EYA1 NC_000008.11:g.(?_71269720)_(71271917_?)deldeletion Pathogenic 832783 8:72181955-72184152
9 EYA1 NM_000503.6(EYA1):c.1598-2A>GSNV Pathogenic 837632 8:72123493-72123493 8:71211258-71211258
10 EYA1 NM_000503.6(EYA1):c.1050+1G>TSNV Pathogenic 854287 8:72181974-72181974 8:71269739-71269739
11 EYA1 NM_000503.6(EYA1):c.966+5G>ASNV Pathogenic 7945 rs606231357 8:72183988-72183988 8:71271753-71271753
12 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
13 SIX1 NM_005982.4(SIX1):c.317T>G (p.Val106Gly)SNV Pathogenic 65696 rs397515560 14:61115591-61115591 14:60648873-60648873
14 SIX1 NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)SNV Pathogenic 65697 rs397515561 14:61115574-61115574 14:60648856-60648856
15 SIX1 NM_005982.4(SIX1):c.50T>A (p.Val17Glu)SNV Pathogenic 65698 rs397515562 14:61115858-61115858 14:60649140-60649140
16 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)SNV Pathogenic 7943 rs121909202 8:72156897-72156897 8:71244662-71244662
17 EYA1 NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)SNV Pathogenic 7941 rs121909201 8:72127705-72127705 8:71215470-71215470
18 EYA1 NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)SNV Pathogenic 7940 rs121909200 8:72127865-72127865 8:71215630-71215630
19 EYA1 EYA1, 1-BP INS, 387Tinsertion Pathogenic 7939
20 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)SNV Pathogenic 7935 rs121909196 8:72128968-72128968 8:71216733-71216733
21 EYA1 NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)deletion Pathogenic 7934 rs606231355 8:72123391-72123394 8:71211156-71211159
22 EYA1 EYA1, ALU INS, EX10insertion Pathogenic 7933
23 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CCindel Pathogenic 7930
24 EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)SNV Pathogenic 7929 rs121909195 8:72184037-72184037 8:71271802-71271802
25 EYA1 NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)SNV Pathogenic 844683 8:72229873-72229873 8:71317638-71317638
26 EYA1 NM_000503.6(EYA1):c.806del (p.Ala269fs)deletion Pathogenic 856463 8:72211302-72211302 8:71299067-71299067
27 EYA1 NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)SNV Pathogenic 834788 8:72184079-72184079 8:71271844-71271844
28 EYA1 NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)SNV Pathogenic 854280 8:72129213-72129213 8:71216978-71216978
29 EYA1 NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)deletion Pathogenic 653122 8:72128932-72128933 8:71216697-71216698
30 EYA1 NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)deletion Pathogenic 657022 8:72127903-72127906 8:71215668-71215671
31 EYA1 NM_000503.6(EYA1):c.1200-1G>ASNV Pathogenic 578749 rs1563634200 8:72129088-72129088 8:71216853-71216853
32 EYA1 NC_000008.11:g.(?_71199320)_(71356506_?)deldeletion Pathogenic 584228 8:72111555-72268741 8:71199320-71356506
33 EYA1 NM_000503.6(EYA1):c.532del (p.Ala178fs)deletion Pathogenic 528877 rs1554548840 8:72229811-72229811 8:71317576-71317576
34 EYA1 NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs)short repeat Pathogenic 528876 rs1554596461 8:72128957-72128958 8:71216722-71216723
35 EYA1 NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)deletion Pathogenic 528874 rs1554615536 8:72182009-72182012 8:71269774-71269777
36 EYA1 NC_000008.11:g.(?_71244583)_(71322288_?)deldeletion Pathogenic 528878 8:72156818-72234523 8:71244583-71322288
37 EYA1 NM_000503.6(EYA1):c.640-15_698deldeletion Pathogenic 459256 rs1554541834 8:72211410-72211483 8:71299175-71299248
38 EYA1 NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)SNV Pathogenic 429912 rs1131691667 8:72184070-72184070 8:71271835-71271835
39 EYA1 NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)SNV Likely pathogenic 644606 8:72111615-72111615 8:71199380-71199380
40 EYA1 NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)SNV Likely pathogenic 48106 rs397517920 8:72111606-72111606 8:71199371-71199371
41 EYA1 NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)SNV Likely pathogenic 812585 8:72127864-72127864 8:71215629-71215629
42 EYA1 NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)SNV Likely pathogenic 417930 rs1060499603 8:72123474-72123474 8:71211239-71211239
43 EYA1 NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)insertion Likely pathogenic 830006 8:72211358-72211359 8:71299123-71299124
44 EYA1 NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)SNV Conflicting interpretations of pathogenicity 7938 rs121909199 8:72129011-72129011 8:71216776-71216776
45 EYA1 NM_000503.6(EYA1):c.1699-8T>CSNV Conflicting interpretations of pathogenicity 194813 rs201537030 8:72111663-72111663 8:71199428-71199428
46 EYA1 NM_000503.6(EYA1):c.671G>T (p.Gly224Val)SNV Conflicting interpretations of pathogenicity 225350 rs201509408 8:72211437-72211437 8:71299202-71299202
47 EYA1 NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)SNV Conflicting interpretations of pathogenicity 225351 rs747476629 8:72233984-72233984 8:71321749-71321749
48 EYA1 NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)SNV Conflicting interpretations of pathogenicity 242914 rs561111097 8:72267020-72267020 8:71354785-71354785
49 EYA1 NM_000503.6(EYA1):c.164C>T (p.Thr55Met)SNV Conflicting interpretations of pathogenicity 178689 rs201434219 8:72246370-72246370 8:71334135-71334135
50 EYA1 NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)SNV Conflicting interpretations of pathogenicity 363653 rs148647933 8:72184069-72184069 8:71271834-71271834

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 EYA1 p.Ser487Pro VAR_005203 rs121909200
2 EYA1 p.Leu505Arg VAR_005204 rs121909201
3 EYA1 p.Gly426Ser VAR_016865 rs121909199
4 EYA1 p.Asp429Gly VAR_016866
5 EYA1 p.Arg440Gln VAR_016867 rs121909196
6 EYA1 p.Leu583Pro VAR_016869 rs397517920
7 EYA1 p.Pro95Ser VAR_064942
8 EYA1 p.Gly140Ser VAR_064943
9 EYA1 p.Glu363Val VAR_064944
10 EYA1 p.Leu514Pro VAR_064945 rs112340154
11 EYA1 p.Tyr527Cys VAR_064946
12 EYA1 p.Met569Thr VAR_064947

Expression for Branchiootorenal Syndrome 1

Search GEO for disease gene expression data for Branchiootorenal Syndrome 1.

Pathways for Branchiootorenal Syndrome 1

GO Terms for Branchiootorenal Syndrome 1

Biological processes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.04 SIX5 SIX1 RIPPLY3 EYA4 EYA3 EYA1
2 sensory perception of sound GO:0007605 9.75 SIX1 EYA4 EYA1
3 anatomical structure morphogenesis GO:0009653 9.72 EYA4 EYA3 EYA1
4 sodium ion transport GO:0006814 9.71 SLC4A5 SLC4A4 ASIC4
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.65 EYA4 EYA3 EYA1
6 sodium ion transmembrane transport GO:0035725 9.61 SLC4A5 SLC4A4 ASIC4
7 inorganic anion transport GO:0015698 9.6 SLC4A5 SLC4A4
8 anion transport GO:0006820 9.59 SLC4A5 SLC4A4
9 regulation of intracellular pH GO:0051453 9.58 SLC4A5 SLC4A4
10 cochlea morphogenesis GO:0090103 9.56 SIX1 EYA1
11 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.54 EYA4 EYA3 EYA1
12 middle ear morphogenesis GO:0042474 9.52 SIX1 EYA1
13 post-Golgi vesicle-mediated transport GO:0006892 9.51 SCAMP2 SCAMP1
14 neuron fate specification GO:0048665 9.49 SIX1 EYA1
15 aorta morphogenesis GO:0035909 9.46 SIX1 EYA1
16 positive regulation of DNA repair GO:0045739 9.43 EYA4 EYA3 EYA1
17 otic vesicle development GO:0071599 9.4 SIX1 EYA1
18 pharyngeal system development GO:0060037 9.33 SIX1 RIPPLY3 EYA1
19 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.32 SIX1 EYA1
20 histone dephosphorylation GO:0016576 9.13 EYA4 EYA3 EYA1
21 anatomical structure development GO:0048856 9.02 SIX5 SIX1 EYA4 EYA3 EYA1

Molecular functions related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.5 EYA4 EYA3 EYA1
2 protein tyrosine phosphatase activity GO:0004725 9.43 EYA4 EYA3 EYA1
3 anion transmembrane transporter activity GO:0008509 9.16 SLC4A5 SLC4A4
4 inorganic anion exchanger activity GO:0005452 8.96 SLC4A5 SLC4A4
5 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A5 SLC4A4

Sources for Branchiootorenal Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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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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