BOS1
MCID: BRN108
MIFTS: 48

Branchiootic Syndrome 1 (BOS1)

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

Aliases & Classifications for Branchiootic Syndrome 1

MalaCards integrated aliases for Branchiootic Syndrome 1:

Name: Branchiootic Syndrome 1 58 76 13 74
Anterior Segment Anomalies with or Without Cataract 58 76 30 13
Deafness 45 41 17
Bo Syndrome 1 58 76
Bos1 58 76
Branchiootic Syndrome, Type 1 41
Branchio-Otic Dysplasia 1 76
Branchio-Otic Syndrome 1 76
Branchiootic Dysplasia 58
Asa 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
incomplete penetrance
onset of hearing loss ranges from childhood to young adulthood
genetic heterogeneity, see bos2 and bos3
allelic disorder to branchiootorenal syndrome (bor, ) and otofaciocervical syndrome


HPO:

33
branchiootic syndrome 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootic Syndrome 1

UniProtKB/Swiss-Prot : 76 Anterior segment anomalies with or without cataract: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. Branchiootic syndrome 1: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

MalaCards based summary : Branchiootic Syndrome 1, also known as anterior segment anomalies with or without cataract, is related to deafness, autosomal recessive 42 and deafness, autosomal recessive 18b. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include eye and lung, and related phenotypes are low-set ears and microtia

OMIM : 58 Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, 113650), but lack renal anomalies (Vincent et al., 1997). Although Melnick et al. (1978) maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, Cremers and Fikkers-van Noord (1980) suggested that the 2 syndromes represent a single entity. See 113600 for a discussion of branchial cleft anomalies, which may be related. (602588)

Related Diseases for Branchiootic Syndrome 1

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1382)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 42 33.7 ILDR1 MARVELD2
2 deafness, autosomal recessive 18b 33.3 OTOG TECTA
3 deafness, autosomal dominant 48 33.3 EYA1 MYO7A
4 deafness, autosomal dominant 12 33.3 OTOG TECTA
5 deafness, autosomal recessive 84a 33.3 CDH23 PTPRQ
6 deafness, autosomal recessive 7 33.1 GJB2 TMC1
7 deafness, autosomal recessive 1a 33.1 GJB2 OTOF
8 deafness, autosomal recessive 3 33.1 GJB2 MYO7A
9 autosomal dominant nonsyndromic deafness 33.0 MYO7A TECTA TMC1
10 deafness, autosomal recessive 59 33.0 GJB2 OTOF PJVK
11 deafness, autosomal dominant 36 33.0 GJB2 SLC26A4 TMC1
12 deafness, autosomal recessive 49 32.9 GJB2 ILDR1 MARVELD2
13 deafness, autosomal recessive 67 32.9 GJB2 ILDR1 PJVK
14 deafness, autosomal recessive 6 32.8 GJB2 MYO7A USH2A
15 deafness, autosomal recessive 9 32.8 GJB2 OTOF PJVK TECTA
16 retinitis pigmentosa-deafness syndrome 32.8 CDH23 MYO7A USH2A WHRN
17 deafness, autosomal recessive 21 32.8 GJB2 OTOG TECTA
18 deafness, autosomal recessive 12 32.7 CDH23 GJB2 MYO7A
19 deafness, autosomal dominant 6 32.7 CDH23 GJB2 MYO7A OTOF SLC26A4
20 deafness, autosomal recessive 16 32.7 GJB2 MYO7A OTOF SLC26A4
21 deafness, autosomal recessive 2 32.6 GJB2 MYO7A OTOF TECTA
22 deafness, autosomal recessive 32.6 GRXCR1 MARVELD2 OTOF PJVK WHRN
23 deafness, autosomal recessive 23 32.6 CDH23 GJB2 MYO7A SLC26A4
24 deafness, autosomal recessive 30 32.6 GJB2 MYO7A SLC26A4 TMC1
25 deafness, autosomal recessive 26 32.5 CDH23 GJB2 OTOF SLC26A4 TECTA
26 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.5 CDH23 EYA1 GJB2 MYO7A OTOF SLC26A4
27 deafness, autosomal dominant 13 32.2 GJB2 MYO7A OTOF OTOG SLC26A4 USH2A
28 usher syndrome, type i 32.2 CDH23 MYO7A USH1G USH2A WHRN
29 deafness, autosomal recessive 85 32.1 CDH23 GPSM2 MYO7A OTOF PJVK PTPRQ
30 deafness, autosomal recessive 83 32.1 CDH23 GPSM2 MYO7A OTOF PJVK PTPRQ
31 autosomal recessive nonsyndromic deafness 32.0 CDH23 GJB2 GPSM2 OTOF OTOG SLC26A4
32 autosomal recessive nonsyndromic deafness 3 31.7 CDH23 GJB2 MYO7A OTOF PJVK SLC26A4
33 usher syndrome, type if 31.7 CDH23 MYO7A USH1G
34 dfnb1 31.6 GJB2 MYO7A OTOF
35 usher syndrome 31.5 CDH23 GJB2 MYO7A USH1G USH2A WHRN
36 usher syndrome, type ig 31.4 CDH23 MYO7A USH1G
37 usher syndrome, type id 31.2 CDH23 MYO7A USH1G USH2A
38 non-syndromic genetic deafness 30.9 GJB2 GRXCR1 MARVELD2 OTOF OTOG PJVK
39 usher syndrome, type iid 30.9 CDH23 MYO7A USH1G USH2A WHRN
40 usher syndrome, type iiia 30.8 CDH23 MYO7A USH1G USH2A WHRN
41 usher syndrome, type iic 30.8 CDH23 MYO7A USH1G USH2A WHRN
42 auditory neuropathy, autosomal dominant, 1 30.8 GJB2 OTOF PJVK
43 sensorineural hearing loss 30.2 CDH23 GJB2 MYO7A OTOF PTPRQ SLC26A4
44 auditory neuropathy spectrum disorder 29.9 MYO7A OTOF PJVK
45 ear malformation 29.5 EYA1 GJB2 SLC26A4
46 nonsyndromic deafness 29.5 CDH23 GJB2 GPSM2 GRXCR1 ILDR1 MARVELD2
47 retinitis pigmentosa 29.1 CDH23 GJB2 MYO7A USH1G USH2A WHRN
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 CDH23 EPS8 GJB2 GPSM2 GRXCR1 ILDR1
49 deafness, x-linked 2 12.4
50 renal tubular acidosis, distal, with progressive nerve deafness 12.3

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



Diseases related to Branchiootic Syndrome 1

Symptoms & Phenotypes for Branchiootic Syndrome 1

Human phenotypes related to Branchiootic Syndrome 1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 microtia 33 HP:0008551
3 sensorineural hearing impairment 33 HP:0000407
4 retrognathia 33 HP:0000278
5 hypoplasia of the cochlea 33 HP:0008586
6 preauricular pit 33 HP:0004467
7 branchial fistula 33 HP:0009795
8 cupped ear 33 HP:0000378
9 mixed hearing impairment 33 HP:0000410
10 cochlear malformation 33 HP:0008554
11 dilatated internal auditory canal 33 HP:0004458

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
microtia
conductive hearing loss
preauricular pits
sensorineural hearing loss
more
Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral

Head And Neck Face:
retrognathia

Clinical features from OMIM:

602588

MGI Mouse Phenotypes related to Branchiootic Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 CDH23 EPS8 EYA1 GPSM2 GRXCR1 ILDR1
2 hearing/vestibular/ear MP:0005377 10.16 CDH23 CLCNKA EPS8 EYA1 GJB2 GPSM2
3 nervous system MP:0003631 9.93 CDH23 EPS8 EYA1 GJB2 GPSM2 GRXCR1
4 vision/eye MP:0005391 9.23 CDH23 EYA1 GJB2 GPSM2 MYO7A USH1G

Drugs & Therapeutics for Branchiootic Syndrome 1

Drugs for Branchiootic Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
4 Anti-Bacterial Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Immunosuppressive Agents Phase 3
7 Immunologic Factors Phase 3
8 Antibiotics, Antitubercular Phase 3
9 Antifungal Agents Phase 3
10
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 40400 644073
11
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
12
Morphine Approved, Investigational Phase 1 57-27-2 5288826
13
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
14
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
15
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
16 Hydrocortisone hemisuccinate Phase 1
17 Buprenorphine, Naloxone Drug Combination Phase 1
18 Adrenergic alpha-Antagonists Phase 1
19 Adrenergic Agents Phase 1
20 Analgesics Phase 1
21 Narcotic Antagonists Phase 1
22 Narcotics Phase 1
23 Neurotransmitter Agents Phase 1
24 Autonomic Agents Phase 1
25 Anti-Inflammatory Agents Phase 1
26 Analgesics, Opioid Phase 1
27 Central Nervous System Depressants Phase 1
28 Hydrocortisone-17-butyrate Phase 1
29 Peripheral Nervous System Agents Phase 1
30 Yohimbe Phase 1
31 Adrenergic Antagonists Phase 1
32 Hydrocortisone 17-butyrate 21-propionate Phase 1
33 Mydriatics Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Regarding Renal Function of Everolimus in Combination With Specific Standard Immunosuppressive Regimen Lung Transplant Recipients Completed NCT01404325 Phase 3 standard therapy;Everolimus
2 Effects of Buprenorphine/Naloxone Dose on Experimental Stress Reactivity and Opioid Abstinence Recruiting NCT03015246 Phase 1 Buprenorphine-Naloxone;Morphine;Yohimbine;Hydrocortisone;Matching Placebo for Yohimbine;Matching Placebo for Hydrocortisone
3 Microparticles and Bronchiolitis Obliterans Syndrome Recruiting NCT02458274

Search NIH Clinical Center for Branchiootic Syndrome 1

Cochrane evidence based reviews: deafness

Genetic Tests for Branchiootic Syndrome 1

Genetic tests related to Branchiootic Syndrome 1:

# Genetic test Affiliating Genes
1 Anterior Segment Anomalies with or Without Cataract 30

Anatomical Context for Branchiootic Syndrome 1

MalaCards organs/tissues related to Branchiootic Syndrome 1:

42
Eye, Lung

Publications for Branchiootic Syndrome 1

Variations for Branchiootic Syndrome 1

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

76
# Symbol AA change Variation ID SNP ID
1 EYA1 p.Glu363Lys VAR_016864 rs121909198
2 EYA1 p.Arg547Gly VAR_016868 rs121909197
3 EYA1 p.Ser242Gly VAR_044452 rs191838840

ClinVar genetic disease variations for Branchiootic Syndrome 1:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIOBP NM_001039141.2(TRIOBP): c.4031G> A (p.Arg1344Gln) single nucleotide variant Benign/Likely benign rs34066624 GRCh37 Chromosome 22, 38129388: 38129388
2 TRIOBP NM_001039141.2(TRIOBP): c.4031G> A (p.Arg1344Gln) single nucleotide variant Benign/Likely benign rs34066624 GRCh38 Chromosome 22, 37733381: 37733381
3 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
4 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
5 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
6 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
7 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
8 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
9 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
10 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
11 EPS8 NM_004447.5(EPS8): c.1330T> C (p.Phe444Leu) single nucleotide variant Uncertain significance rs139258361 GRCh38 Chromosome 12, 15650927: 15650927
12 EPS8 NM_004447.5(EPS8): c.1330T> C (p.Phe444Leu) single nucleotide variant Uncertain significance rs139258361 GRCh37 Chromosome 12, 15803861: 15803861
13 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh37 Chromosome 8, 72123474: 72123474
14 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh38 Chromosome 8, 71211239: 71211239
15 LOXHD1 NM_144612.6(LOXHD1): c.746G> A (p.Trp249Ter) single nucleotide variant Pathogenic rs1248889536 GRCh37 Chromosome 18, 44190752: 44190752
16 LOXHD1 NM_144612.6(LOXHD1): c.746G> A (p.Trp249Ter) single nucleotide variant Pathogenic rs1248889536 GRCh38 Chromosome 18, 46610789: 46610789
17 MYO7A NM_000260.3(MYO7A): c.4505A> G (p.Asp1502Gly) single nucleotide variant Uncertain significance rs757460257 GRCh38 Chromosome 11, 77198558: 77198558
18 MYO7A NM_000260.3(MYO7A): c.4505A> G (p.Asp1502Gly) single nucleotide variant Uncertain significance rs757460257 GRCh37 Chromosome 11, 76909603: 76909603
19 GPSM2 NM_001321039.1(GPSM2): c.138C> A (p.Phe46Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 108896945: 108896945
20 GPSM2 NM_001321039.1(GPSM2): c.138C> A (p.Phe46Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 109439567: 109439567
21 CLCNKA NM_004070.3(CLCNKA): c.1985G> T (p.Gly662Val) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 16033225: 16033225
22 CLCNKA NM_004070.3(CLCNKA): c.1985G> T (p.Gly662Val) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 16359720: 16359720
23 USH2A NM_206933.2(USH2A): c.3661C> T (p.Gln1221Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 216373119: 216373119
24 USH2A NM_206933.2(USH2A): c.3661C> T (p.Gln1221Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 216199777: 216199777
25 PJVK NM_001042702.4(PJVK): c.158C> G (p.Ser53Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 178453567: 178453567
26 PJVK NM_001042702.4(PJVK): c.158C> G (p.Ser53Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 179318294: 179318294
27 PJVK NM_001042702.4(PJVK): c.162_172del (p.Pro55Glufs) deletion Pathogenic GRCh38 Chromosome 2, 178453571: 178453581
28 PJVK NM_001042702.4(PJVK): c.162_172del (p.Pro55Glufs) deletion Pathogenic GRCh37 Chromosome 2, 179318298: 179318308
29 PJVK NM_001042702.4(PJVK): c.406C> T (p.Arg136Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 178454526: 178454526
30 PJVK NM_001042702.4(PJVK): c.406C> T (p.Arg136Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 179319253: 179319253
31 OTOF NM_194248.2(OTOF): c.3376dup (p.Ile1126Asnfs) duplication Pathogenic GRCh38 Chromosome 2, 26474023: 26474023
32 OTOF NM_194248.2(OTOF): c.3376dup (p.Ile1126Asnfs) duplication Pathogenic GRCh37 Chromosome 2, 26696891: 26696891
33 OTOF NM_194248.2(OTOF): c.1550T> C (p.Leu517Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 26482435: 26482435
34 OTOF NM_194248.2(OTOF): c.1550T> C (p.Leu517Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 26705303: 26705303
35 ILDR1 NM_175924.3(ILDR1): c.1029_1030delTT (p.Trp344Glyfs) deletion Pathogenic GRCh37 Chromosome 3, 121712434: 121712435
36 ILDR1 NM_175924.3(ILDR1): c.1029_1030delTT (p.Trp344Glyfs) deletion Pathogenic GRCh38 Chromosome 3, 121993587: 121993588
37 GRXCR1 NM_001080476.2(GRXCR1): c.655G> A (p.Glu219Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 43020381: 43020381
38 GRXCR1 NM_001080476.2(GRXCR1): c.655G> A (p.Glu219Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 43022398: 43022398
39 MARVELD2 NM_001038603.2(MARVELD2): c.1223_1224insA (p.Val409Serfs) insertion Pathogenic GRCh38 Chromosome 5, 69432567: 69432568
40 MARVELD2 NM_001038603.2(MARVELD2): c.1223_1224insA (p.Val409Serfs) insertion Pathogenic GRCh37 Chromosome 5, 68728394: 68728395
41 SLC26A4 NM_000441.1(SLC26A4): c.42delC (p.Glu15Serfs) deletion Pathogenic GRCh38 Chromosome 7, 107661683: 107661683
42 SLC26A4 NM_000441.1(SLC26A4): c.42delC (p.Glu15Serfs) deletion Pathogenic GRCh37 Chromosome 7, 107302128: 107302128
43 SLC26A4 NM_000441.1(SLC26A4): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 107302240: 107302240
44 SLC26A4 NM_000441.1(SLC26A4): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 107661795: 107661795
45 SLC26A4 NM_000441.1(SLC26A4): c.317C> T (p.Ala106Val) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 107312595: 107312595
46 SLC26A4 NM_000441.1(SLC26A4): c.317C> T (p.Ala106Val) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 107672150: 107672150
47 SLC26A4 NM_000441.1(SLC26A4): c.1264-3C> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 107334845: 107334845
48 SLC26A4 NM_000441.1(SLC26A4): c.1264-3C> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 107694400: 107694400
49 WHRN NM_015404.3(WHRN): c.2388_2389delCG (p.Asn796Lysfs) deletion Pathogenic GRCh38 Chromosome 9, 114403925: 114403926
50 WHRN NM_015404.3(WHRN): c.2388_2389delCG (p.Asn796Lysfs) deletion Pathogenic GRCh37 Chromosome 9, 117166205: 117166206

Copy number variations for Branchiootic Syndrome 1 from CNVD:

7 (show all 12)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 101483 16 3862993 3941884 Deletion Deafness
2 118035 17 75300000 81195210 Gain or loss ACTG1 Deafness
3 118037 17 75300000 81195210 Gain or loss FSCN2 Deafness
4 163890 22 32200000 37600000 Gain or loss MYH9 Deafness
5 195551 5 152100000 155600000 Deletion AK124699 Deafness
6 195556 5 152100000 155600000 Deletion C5ORF21 Deafness
7 195561 5 152100000 155600000 Deletion C5ORF3 Deafness
8 195566 5 152100000 155600000 Deletion GALNT10 Deafness
9 195571 5 152100000 155600000 Deletion HAND1 Deafness
10 195576 5 152100000 155600000 Deletion MFAP3 Deafness
11 195581 5 152100000 155600000 Deletion NR2F1 Deafness
12 195586 5 152100000 155600000 Deletion SAP30L Deafness

Expression for Branchiootic Syndrome 1

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

Pathways for Branchiootic Syndrome 1

GO Terms for Branchiootic Syndrome 1

Cellular components related to Branchiootic Syndrome 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.83 MARVELD2 MYO7A OTOG SLC26A4 USH2A
2 cell cortex GO:0005938 9.72 EPS8 GPSM2 MYO7A
3 ciliary basal body GO:0036064 9.71 USH1G USH2A WHRN
4 photoreceptor inner segment GO:0001917 9.56 MYO7A USH1G USH2A WHRN
5 stereocilium tip GO:0032426 9.54 EPS8 TMC1 WHRN
6 periciliary membrane compartment GO:1990075 9.51 USH2A WHRN
7 stereocilia ankle link GO:0002141 9.49 USH2A WHRN
8 stereocilia ankle link complex GO:0002142 9.48 USH2A WHRN
9 tricellular tight junction GO:0061689 9.46 ILDR1 MARVELD2
10 photoreceptor connecting cilium GO:0032391 9.46 MYO7A USH1G USH2A WHRN
11 USH2 complex GO:1990696 9.4 USH2A WHRN
12 stereocilium bundle GO:0032421 9.26 EPS8 PTPRQ USH2A WHRN
13 stereocilium GO:0032420 9.02 CDH23 EPS8 GRXCR1 MYO7A WHRN
14 membrane GO:0016020 10.43 CDH23 CLCNKA EPS8 GJB2 GPSM2 ILDR1
15 integral component of membrane GO:0016021 10.34 CDH23 CLCNKA GJB2 ILDR1 MARVELD2 OTOF
16 plasma membrane GO:0005886 10.2 CDH23 CLCNKA EPS8 GJB2 GPSM2 ILDR1

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

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.67 EYA1 MYO7A PTPRQ USH1G
2 photoreceptor cell maintenance GO:0045494 9.58 CDH23 USH1G USH2A
3 inner ear receptor cell stereocilium organization GO:0060122 9.55 CDH23 GRXCR1 MYO7A USH1G WHRN
4 inner ear receptor cell differentiation GO:0060113 9.5 MYO7A USH1G USH2A
5 sensory perception of sound GO:0007605 9.5 CDH23 EYA1 GJB2 GRXCR1 MARVELD2 MYO7A
6 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A WHRN
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 PTPRQ TMC1
8 equilibrioception GO:0050957 9.43 CDH23 MYO7A USH1G
9 sensory perception of light stimulus GO:0050953 9.35 CDH23 MYO7A USH1G USH2A WHRN

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

# Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.62 MYO7A USH1G

Sources for Branchiootic Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....