BBS8
MCID: BRD020
MIFTS: 48

Bardet-Biedl Syndrome 8 (BBS8)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bardet-Biedl Syndrome 8

MalaCards integrated aliases for Bardet-Biedl Syndrome 8:

Name: Bardet-Biedl Syndrome 8 56 12 52 73 29 6 15 71
Bbs8 56 12 73
Bardet-Biedl Syndrome, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 8

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 8: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

MalaCards based summary : Bardet-Biedl Syndrome 8, also known as bbs8, is related to nonsyndromic retinitis pigmentosa and bardet-biedl syndrome 2. An important gene associated with Bardet-Biedl Syndrome 8 is TTC8 (Tetratricopeptide Repeat Domain 8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, kidney and liver, and related phenotypes are situs inversus totalis and renal dysplasia

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31.

OMIM : 56 BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615985)

Related Diseases for Bardet-Biedl Syndrome 8

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic retinitis pigmentosa 30.9 TTC8 BBS2 BBS1
2 bardet-biedl syndrome 2 30.6 MKKS BBS2
3 bardet-biedl syndrome 4 30.4 CEP290 BBS4
4 body mass index quantitative trait locus 11 29.7 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
5 retinal degeneration 29.3 MKKS IFT88 CEP290 BBS7 BBS4 BBS10
6 polydactyly 28.7 TTC8 MKS1 MKKS LZTFL1 BBS7 BBS4
7 bardet-biedl syndrome 1 28.5 MKKS LZTFL1 IFT88 BBS9 BBS7 BBS4
8 retinitis pigmentosa 26.0 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
9 bardet-biedl syndrome 25.7 TTC8 TTC26 RAB3IP MKS1 MKKS LZTFL1
10 obsolete: postaxial polydactyly of fingers 10.4 BBS10 BBIP1
11 neuroretinitis 10.3
12 retinitis 10.3
13 encephalocele 10.3 MKS1 CEP290
14 laurence-moon syndrome 10.2 MKKS BBS5 BBS2
15 joubert syndrome 6 10.2 MKS1 CEP290
16 retinitis pigmentosa 51 10.2
17 ciliopathy 10.2
18 joubert syndrome 7 10.2 MKS1 CEP290
19 leber congenital amaurosis 6 10.2 MKS1 CEP290
20 joubert syndrome 2 10.2 MKS1 CEP290
21 nephronophthisis 11 10.2 MKS1 CEP290
22 meckel syndrome, type 4 10.2 MKS1 CEP290
23 asphyxiating thoracic dystrophy 10.2 IFT88 BBS7 BBS1
24 joubert syndrome 5 10.1 MKS1 CEP290
25 joubert syndrome 24 10.1 IFT88 CEP290
26 joubert syndrome 4 10.1 MKS1 CEP290 BBS2
27 nephronophthisis 7 10.1 MKS1 CEP290
28 pathologic nystagmus 10.1 MKS1 CEP290 BBS1
29 ciliary dyskinesia, primary, 9 10.1 IFT88 BBS4
30 simpson-golabi-behmel syndrome, type 2 10.1 IFT88 CEP290 BBS4
31 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.1
32 bardet-biedl syndrome 5 10.1
33 bardet-biedl syndrome 7 10.1
34 situs inversus 10.1
35 inherited retinal disorder 10.1 CEP290 BBS2 BBS10 BBS1
36 meckel syndrome, type 2 10.1 MKS1 CEP290
37 meckel syndrome, type 6 10.0 MKS1 CEP290
38 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS9 BBS5 BBS4 BBS12 BBS10
39 meckel syndrome, type 3 10.0 MKS1 IFT88 CEP290
40 coloboma of macula 10.0 MKS1 CFAP47 CEP290 BBS2
41 chromosome 2q35 duplication syndrome 10.0 MKKS CFAP47 BBS2 BBS10 BBS1
42 polycystic kidney disease 2 with or without polycystic liver disease 9.9 MKS1 KIF17 IFT88
43 tetralogy of fallot 9.9 MKKS BBS7 BBS4 BBS2 BBS1
44 orofaciodigital syndrome i 9.9 RAB3IP IFT88 CEP290
45 bardet-biedl syndrome 10 9.9 BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
46 nephronophthisis 2 9.9 MKS1 IFT88 CEP290 BBS1
47 orofaciodigital syndrome 9.8 MKS1 IFT88 CEP290 BBS4
48 mckusick-kaufman syndrome 9.8 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
49 meckel syndrome, type 5 9.8 MKS1 CEP290
50 polycystic kidney disease 4 with or without polycystic liver disease 9.7 MKS1 IFT88 CEP290 BBS4 BBS2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 8:



Diseases related to Bardet-Biedl Syndrome 8

Symptoms & Phenotypes for Bardet-Biedl Syndrome 8

Human phenotypes related to Bardet-Biedl Syndrome 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 renal dysplasia 31 occasional (7.5%) HP:0000110
3 obesity 31 HP:0001513
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 rod-cone dystrophy 31 HP:0000510
7 cognitive impairment 31 HP:0100543
8 brachycephaly 31 HP:0000248
9 hypogonadism 31 HP:0000135
10 hypospadias 31 HP:0000047
11 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Head And Neck Head:
brachycephaly

Skeletal Hands:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Genitourinary Kidneys:
renal dysplasia (in some patients)

Neurologic Central Nervous System:
cognitive impairment
mental retardation
delayed development

Genitourinary External Genitalia Male:
hypogonadism
hypospadias

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615985

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 8:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 behavior/neurological MP:0005386 10.36 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
3 cellular MP:0005384 10.34 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
4 nervous system MP:0003631 10.33 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.21 BBS1 BBS4 BBS7 CEP290 IFT27 IFT88
7 cardiovascular system MP:0005385 10.19 BBS1 BBS4 BBS5 BBS7 CEP290 IFT27
8 adipose tissue MP:0005375 10.16 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
9 limbs/digits/tail MP:0005371 10.13 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
10 renal/urinary system MP:0005367 10.11 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
11 reproductive system MP:0005389 9.97 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
12 hearing/vestibular/ear MP:0005377 9.95 BBS1 BBS4 IFT88 MKKS MKS1 TTC26
13 respiratory system MP:0005388 9.86 BBS1 BBS4 CEP290 IFT27 IFT88 MKKS
14 skeleton MP:0005390 9.81 BBS12 BBS5 BBS9 CEP290 IFT27 IFT88
15 vision/eye MP:0005391 9.53 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
16 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811

Search NIH Clinical Center for Bardet-Biedl Syndrome 8

Genetic Tests for Bardet-Biedl Syndrome 8

Genetic tests related to Bardet-Biedl Syndrome 8:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 8 29 TTC8

Anatomical Context for Bardet-Biedl Syndrome 8

MalaCards organs/tissues related to Bardet-Biedl Syndrome 8:

40
Heart, Kidney, Liver, Brain, Retina, Testes, Pituitary

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

(show all 42)
# Title Authors PMID Year
1
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 61 56 6
16308660 2006
2
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 61 56 6
14520415 2003
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 56
19797195 2010
5
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
6
Tissue-dependent differences in Bardet-Biedl syndrome gene expression. 61
31845361 2020
7
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
8
Absence of BBSome function leads to astrocyte reactivity in the brain. 61
31072410 2019
9
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 61
30901771 2019
10
[Bardet-Biedl syndrome protein-8 is involved in flagellar membrane protein transport in Chlamydomonas reinhardtii]. 61
30756542 2019
11
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
12
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. 61
29049287 2017
13
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 61
28761321 2017
14
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 61
26195043 2016
15
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 61
25964651 2015
16
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 61
25776555 2015
17
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 61
25552655 2015
18
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. 61
25605782 2015
19
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
20
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
21
Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. 61
25243405 2014
22
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 61
23716571 2013
23
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. 61
22767577 2012
24
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
25
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 61
21646512 2011
26
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61
21044901 2011
27
[Bardet - Biedl syndrome in the child. A study of 11 cases]. 61
21267825 2011
28
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. 61
20643117 2010
29
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. 61
20207966 2010
30
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
31
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 61
20451172 2010
32
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 61
19402160 2009
33
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
34
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006
35
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
36
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61
15770229 2005
37
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
38
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
39
[Update on Bardet-Biedl syndrome]. 61
15767906 2005
40
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 61
15155861 2004
41
Establishing a connection between cilia and Bardet-Biedl Syndrome. 61
15106604 2004
42
Characterization and distribution of bombesin binding sites in the goldfish hypothalamic feeding center and pituitary. 61
8746543 1995

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC8 NM_001288782.1(TTC8):c.30+2258_30+2263deldeletion Pathogenic 2528 rs587777806 14:89310158-89310163 14:88843814-88843819
2 TTC8 NM_144596.3(TTC8):c.1049+2_1049+4deldeletion Pathogenic 2529 rs587777807 14:89336544-89336546 14:88870200-88870202
3 TTC8 NM_144596.3(TTC8):c.624+1G>ASNV Pathogenic 2531 rs587777808 14:89310195-89310195 14:88843851-88843851
4 TTC8 NM_144596.3(TTC8):c.265+1_265+2deldeletion Likely pathogenic 804470 14:89305917-89305918 14:88839573-88839574
5 TTC8 NM_144596.3(TTC8):c.489G>A (p.Thr163=)SNV Conflicting interpretations of pathogenicity 2530 rs119103286 14:89307540-89307540 14:88841196-88841196
6 TTC8 NM_198309.3(TTC8):c.1021C>T (p.Arg341Trp)SNV Uncertain significance 423070 rs755412340 14:89337894-89337894 14:88871550-88871550
7 TTC8 NM_198309.3(TTC8):c.1297C>T (p.Arg433Trp)SNV Uncertain significance 531831 rs140698625 14:89338776-89338776 14:88872432-88872432

Expression for Bardet-Biedl Syndrome 8

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 8.

Pathways for Bardet-Biedl Syndrome 8

GO Terms for Bardet-Biedl Syndrome 8

Cellular components related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
2 cytosol GO:0005829 10.4 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
3 cytoskeleton GO:0005856 10.22 TTC8 RAB3IP MKS1 MKKS KIF17 IFT88
4 centrosome GO:0005813 10.13 TTC8 TTC26 MKS1 MKKS IFT88 IFT27
5 microtubule organizing center GO:0005815 10.06 TTC8 MKS1 MKKS IFT88 CEP290 BBS9
6 ciliary basal body GO:0036064 9.93 TTC8 TTC26 MKS1 MKKS KIF17 IFT88
7 motile cilium GO:0031514 9.91 MKKS IFT88 IFT27 BBS4 BBS2
8 ciliary membrane GO:0060170 9.91 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 centriole GO:0005814 9.88 MKS1 IFT88 CEP290 BBS4
10 BBSome GO:0034464 9.86 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
11 cilium GO:0005929 9.86 TTC8 TTC26 MKS1 KIF17 IFT88 IFT27
12 axoneme GO:0005930 9.85 KIF17 BBS7 BBS5 BBS1
13 centriolar satellite GO:0034451 9.84 CEP290 BBS9 BBS5 BBS4
14 photoreceptor connecting cilium GO:0032391 9.8 TTC8 KIF17 CEP290 BBS4
15 ciliary transition zone GO:0035869 9.78 MKS1 CEP290 BBS9 BBS4
16 ciliary tip GO:0097542 9.76 TTC26 IFT88 IFT27
17 intraciliary transport particle B GO:0030992 9.76 TTC26 KIF17 IFT88 IFT27
18 non-motile cilium GO:0097730 9.74 TTC8 IFT88 BBS4
19 pericentriolar material GO:0000242 9.6 BBS9 BBS4
20 MKS complex GO:0036038 9.59 MKS1 CEP290
21 cell projection GO:0042995 9.55 TTC8 TTC26 RAB3IP MKS1 KIF17 IFT88

Biological processes related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.1 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
2 protein transport GO:0015031 10.07 TTC8 TTC26 RAB3IP KIF17 IFT27 CEP290
3 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.91 TTC8 MKKS BBS9 BBS7 BBS4 BBS2
5 smoothened signaling pathway GO:0007224 9.9 TTC26 MKS1 IFT27 BBS7
6 heart looping GO:0001947 9.89 MKKS BBS7 BBS5 BBS4
7 intraciliary transport involved in cilium assembly GO:0035735 9.86 TTC26 KIF17 IFT88 IFT27
8 ciliary basal body-plasma membrane docking GO:0097711 9.85 RAB3IP MKS1 CEP290
9 spermatid development GO:0007286 9.84 TTC26 MKKS BBS4
10 protein localization GO:0008104 9.84 BBS7 BBS4 BBS2
11 intracellular transport GO:0046907 9.84 MKKS BBS7 BBS5 BBS4
12 cerebral cortex development GO:0021987 9.83 MKKS BBS4 BBS2
13 determination of left/right symmetry GO:0007368 9.83 MKS1 MKKS BBS7
14 protein localization to cilium GO:0061512 9.83 TTC26 BBS9 BBS4 BBS1
15 hippocampus development GO:0021766 9.82 MKKS BBS4 BBS2
16 negative regulation of GTPase activity GO:0034260 9.82 TTC8 MKKS BBS4
17 retina homeostasis GO:0001895 9.81 BBS4 BBS10 BBS1
18 positive regulation of multicellular organism growth GO:0040018 9.81 MKKS BBS4 BBS2
19 intraciliary transport GO:0042073 9.81 TTC26 IFT88 IFT27 BBS12
20 non-motile cilium assembly GO:1905515 9.81 TTC8 MKS1 MKKS IFT88 BBS7 BBS4
21 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2
22 photoreceptor cell maintenance GO:0045494 9.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
23 brain morphogenesis GO:0048854 9.79 MKKS BBS4 BBS2
24 chaperone-mediated protein complex assembly GO:0051131 9.79 MKKS BBS12 BBS10
25 regulation of stress fiber assembly GO:0051492 9.78 TTC8 MKKS BBS4
26 striatum development GO:0021756 9.76 MKKS BBS4 BBS2
27 inner ear receptor cell stereocilium organization GO:0060122 9.76 TTC8 MKS1 IFT88 IFT27
28 response to leptin GO:0044321 9.75 MKKS BBS4 BBS2
29 leptin-mediated signaling pathway GO:0033210 9.74 MKKS BBS4 BBS2
30 cell projection organization GO:0030030 9.73 TTC8 MKS1 KIF17 IFT88 CEP290 BBS9
31 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.72 MKKS BBS4 BBS2
32 motile cilium assembly GO:0044458 9.68 MKS1 BBS5
33 face development GO:0060324 9.68 MKKS BBS4
34 vasodilation GO:0042311 9.68 MKKS BBS2
35 protein localization to organelle GO:0033365 9.68 BBS4 BBS2
36 negative regulation of actin filament polymerization GO:0030837 9.67 MKKS BBS4
37 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
38 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
39 sensory processing GO:0050893 9.63 TTC8 BBS4
40 pigment granule aggregation in cell center GO:0051877 9.62 MKKS BBS7
41 cilium assembly GO:0060271 9.44 TTC8 TTC26 MKS1 MKKS IFT88 CEP290

Molecular functions related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 TTC8 RAB3IP MKS1 MKKS LZTFL1 IFT88
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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