BBS14
MCID: BRD032
MIFTS: 46

Bardet-Biedl Syndrome 14 (BBS14)

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 14

MalaCards integrated aliases for Bardet-Biedl Syndrome 14:

Name: Bardet-Biedl Syndrome 14 56 12 73 29 6 15 71
Bardet-Biedl Syndrome 14, Modifier of 56 29 6
Bbs14 56 12 73
Bardet-Biedl Syndrome, Type 14 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one patient with limited clinical information has been reported (last curated october 2014)


HPO:

31
bardet-biedl syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110136
OMIM 56 615991
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C2673874
UMLS 71 C2673874

Summaries for Bardet-Biedl Syndrome 14

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 14: 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 14, also known as bardet-biedl syndrome 14, modifier of, is related to joubert syndrome 9 and nephronophthisis 19. An important gene associated with Bardet-Biedl Syndrome 14 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, kidney and eye, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.

OMIM : 56 BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615991)

Related Diseases for Bardet-Biedl Syndrome 14

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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 9 10.4 TMEM67 CEP290
2 nephronophthisis 19 10.4 TMEM67 CEP290
3 joubert syndrome 26 10.4 TMEM67 BBS4
4 encephalocele 10.4 TMEM67 MKS1 CEP290
5 joubert syndrome 6 10.4 TMEM67 MKS1 CEP290
6 joubert syndrome 7 10.3 TMEM67 MKS1 CEP290
7 meckel syndrome, type 4 10.3 TMEM67 MKS1 CEP290
8 joubert syndrome 2 10.3 TMEM67 MKS1 CEP290
9 meckel syndrome, type 8 10.3 TMEM67 MKS1
10 joubert syndrome 8 10.3 TMEM67 CEP290
11 meckel syndrome, type 2 10.3 TMEM67 MKS1 CEP290
12 meckel syndrome, type 5 10.3 TMEM67 MKS1 CEP290
13 meckel syndrome, type 3 10.3 TMEM67 MKS1 CEP290
14 leber congenital amaurosis 6 10.3 MKS1 CEP290
15 hydrolethalus syndrome 1 10.3 TMEM67 MKS1 CEP290
16 retinal aplasia 10.3 SDCCAG8 CEP290 C12orf29
17 bardet-biedl syndrome 12 10.3 WDPCP BBS12
18 obsolete: postaxial polydactyly of fingers 10.3 BBS10 BBIP1
19 joubert syndrome 5 10.3 TMEM67 MKS1 CEP290 C12orf29
20 nephronophthisis 13 10.3 SDCCAG8 CEP290
21 nonsyndromic retinitis pigmentosa 10.2 TTC8 BBS2 BBS1
22 bardet-biedl syndrome 2 10.2 MKKS BBS2
23 simpson-golabi-behmel syndrome, type 2 10.2 SDCCAG8 CEP290 BBS4
24 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290 BBS1
25 joubert syndrome 4 10.2 TMEM67 MKS1 CEP290 BBS2
26 nephronophthisis 14 10.2 TMEM67 CEP290
27 nephronophthisis 16 10.2 SDCCAG8 CEP290
28 laurence-moon syndrome 10.2 MKKS BBS5 BBS2
29 nephronophthisis 11 10.1 TMEM67 SDCCAG8 MKS1 CEP290
30 nephronophthisis 7 10.1 TMEM67 SDCCAG8 MKS1 CEP290
31 nephronophthisis 9 10.1 TMEM67 SDCCAG8 MKS1 CEP290
32 inherited retinal disorder 10.1 CEP290 BBS2 BBS10 BBS1
33 meckel syndrome, type 6 10.1 WDPCP TMEM67 MKS1 CEP290
34 nephronophthisis 12 10.1 SDCCAG8 CEP290
35 ciliopathy 10.1 TMEM67 SDCCAG8 BBS7 BBS1
36 joubert syndrome 3 10.1 WDPCP TMEM67 MKS1 CEP290
37 orofaciodigital syndrome vi 10.1 WDPCP TMEM67 MKS1 CEP290
38 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS9 BBS5 BBS4 BBS12 BBS10
39 nephronophthisis 2 10.0 TMEM67 SDCCAG8 MKS1 CEP290 BBS1
40 renal-hepatic-pancreatic dysplasia 10.0 TRIM32 SDCCAG8 MKKS CEP290
41 bardet-biedl syndrome 4 9.9 CEP290 BBS4
42 orofaciodigital syndrome 9.9 WDPCP TMEM67 MKS1 CEP290 BBS4
43 coloboma of macula 9.9 TMEM67 SDCCAG8 MKS1 CEP290 BBS2
44 bardet-biedl syndrome 10 9.8 BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
45 chromosome 2q35 duplication syndrome 9.8 WDPCP MKKS BBS2 BBS10 BBS1
46 tetralogy of fallot 9.8 MKKS BBS7 BBS4 BBS2 BBS1
47 mckusick-kaufman syndrome 9.7 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
48 polycystic kidney disease 4 with or without polycystic liver disease 9.7 TMEM67 SDCCAG8 MKS1 CEP290 BBS4 BBS2
49 physical disorder 9.7 MKS1 MKKS CEP290 BBS4 BBS2 BBS1
50 visceral heterotaxy 9.7 TMEM67 MKS1 CEP290 BBS7 BBS4 BBS2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 14:



Diseases related to Bardet-Biedl Syndrome 14

Symptoms & Phenotypes for Bardet-Biedl Syndrome 14

Human phenotypes related to Bardet-Biedl Syndrome 14:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Head And Neck Eyes:
retinitis pigmentosa

Neurologic Central Nervous System:
developmental delay
mental retardation

Genitourinary Kidneys:
renal disease

Clinical features from OMIM:

615991

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 14:

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 cellular MP:0005384 10.37 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3 nervous system MP:0003631 10.32 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
4 behavior/neurological MP:0005386 10.29 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.25 BBS1 BBS4 BBS7 CEP290 IFT27 MKKS
7 cardiovascular system MP:0005385 10.24 BBS1 BBS4 BBS5 BBS7 CEP290 IFT27
8 mortality/aging MP:0010768 10.22 BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
9 limbs/digits/tail MP:0005371 10.17 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
10 adipose tissue MP:0005375 10.16 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
11 digestive/alimentary MP:0005381 10.1 BBS2 BBS4 BBS7 IFT27 MKS1 SDCCAG8
12 renal/urinary system MP:0005367 10.1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
13 reproductive system MP:0005389 9.91 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
14 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT27 MKKS MKS1
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 14

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 14

Genetic Tests for Bardet-Biedl Syndrome 14

Genetic tests related to Bardet-Biedl Syndrome 14:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 14 29 CEP290 TMEM67
2 Bardet-Biedl Syndrome 14, Modifier of 29

Anatomical Context for Bardet-Biedl Syndrome 14

MalaCards organs/tissues related to Bardet-Biedl Syndrome 14:

40
Heart, Kidney, Eye, Liver

Publications for Bardet-Biedl Syndrome 14

Articles related to Bardet-Biedl Syndrome 14:

(show all 12)
# Title Authors PMID Year
1
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 56 6
18327255 2008
2
Bardet-Biedl Syndrome 61 6
20301537 2003
3
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
4
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 61
29127258 2018
5
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. 61
23403234 2013
6
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. 61
22004009 2012
7
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 61
21642631 2011
8
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 61
21052717 2011
9
BBS10 mutations are common in 'Meckel'-type cystic kidneys. 61
20805367 2010
10
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
11
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
12
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 61
20648243 2010

Variations for Bardet-Biedl Syndrome 14

ClinVar genetic disease variations for Bardet-Biedl Syndrome 14:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs)deletion Pathogenic 217621 rs771454167 12:88456549-88456549 12:88062772-88062772
2 CEP290 NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
3 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
4 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
5 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
6 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
7 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
8 CEP290 NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter)SNV Pathogenic 1345 rs267606719 12:88471004-88471004 12:88077227-88077227
9 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
10 CEP290 NM_025114.3(CEP290):c.1419_1423del (p.Ile474Argfs)deletion Pathogenic 522742 rs771266705 12:88513990-88513994 12:88120213-88120217
11 CEP290 NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
12 CEP290 NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
13 TMEM67 NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
14 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
15 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
16 TMEM67 NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
17 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
18 CEP290 NM_025114.3(CEP290):c.4437+1G>ASNV Conflicting interpretations of pathogenicity 285948 rs760915898 12:88479815-88479815 12:88086038-88086038
19 CEP290 NM_001009894.3(C12orf29):c.*807_*808CT[1]short repeat Conflicting interpretations of pathogenicity 372319 rs569673313 12:88443006-88443007 12:88049229-88049230
20 TMEM67 NM_001142301.1(TMEM67):c.715A>T (p.Ser239Cys)SNV Conflicting interpretations of pathogenicity 1377 rs111619594 8:94793190-94793190 8:93780962-93780962
21 CEP290 NM_025114.3(CEP290):c.4938A>G (p.Lys1646=)SNV Uncertain significance 241585 rs371582975 12:88476882-88476882 12:88083105-88083105
22 CEP290 NM_025114.3(CEP290):c.2551G>A (p.Val851Ile)SNV Uncertain significance 241583 rs764963626 12:88500808-88500808 12:88107031-88107031
23 CEP290 NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val)SNV Uncertain significance 281249 rs183071230 12:88465084-88465084 12:88071307-88071307
24 CEP290 NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg)SNV Uncertain significance 166835 rs201504946 12:88480220-88480220 12:88086443-88086443
25 CEP290 NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn)SNV Uncertain significance 196713 rs201982308 12:88483178-88483178 12:88089401-88089401
26 CEP290 NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys)SNV Uncertain significance 197084 rs373307908 12:88472949-88472949 12:88079172-88079172
27 CEP290 NM_025114.3(CEP290):c.6629G>A (p.Arg2210His)SNV Uncertain significance 377291 rs371833544 12:88453691-88453691 12:88059914-88059914
28 CEP290 NM_025114.3(CEP290):c.1670G>A (p.Arg557His)SNV Uncertain significance 418122 rs184018899 12:88512301-88512301 12:88118524-88118524
29 CEP290 NM_025114.3(CEP290):c.963T>A (p.Asp321Glu)SNV Uncertain significance 286797 rs774072453 12:88520195-88520195 12:88126418-88126418
30 CEP290 NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly)SNV Uncertain significance 461788 rs184323010 12:88454737-88454737 12:88060960-88060960
31 TMEM67 NM_001142301.1(TMEM67):c.1766C>T (p.Thr589Ile)SNV Uncertain significance 497917 rs370004832 8:94809607-94809607 8:93797379-93797379
32 TMEM67 NM_001142301.1(TMEM67):c.2154T>C (p.Asp718=)SNV Benign 126304 rs117195541 8:94817064-94817064 8:93804836-93804836

Expression for Bardet-Biedl Syndrome 14

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 14.

Pathways for Bardet-Biedl Syndrome 14

Pathways related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 TTC8 TMEM67 SDCCAG8 MKS1 MKKS LZTFL1
2
Show member pathways
11.76 TTC8 MKKS LZTFL1 BBS9 BBS7 BBS5

GO Terms for Bardet-Biedl Syndrome 14

Cellular components related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 MKS1
2 cytosol GO:0005829 10.38 TTC8 TRIM32 SDCCAG8 MKS1 MKKS LZTFL1
3 cytoskeleton GO:0005856 10.22 WDPCP TTC8 TMEM67 SDCCAG8 MKS1 MKKS
4 centrosome GO:0005813 10.13 TTC8 TMEM67 SDCCAG8 MKS1 MKKS IFT27
5 microtubule organizing center GO:0005815 10.11 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS9
6 ciliary membrane GO:0060170 9.92 TTC8 TMEM67 BBS9 BBS7 BBS5 BBS4
7 centriolar satellite GO:0034451 9.88 SDCCAG8 CEP290 BBS9 BBS5 BBS4
8 centriole GO:0005814 9.86 SDCCAG8 MKS1 CEP290 BBS4
9 BBSome GO:0034464 9.86 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
10 motile cilium GO:0031514 9.85 MKKS IFT27 BBS4 BBS2
11 ciliary transition zone GO:0035869 9.85 TMEM67 MKS1 CEP290 BBS9 BBS4
12 ciliary basal body GO:0036064 9.85 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS7
13 axoneme GO:0005930 9.83 WDPCP BBS7 BBS5 BBS1
14 cilium GO:0005929 9.83 WDPCP TTC8 TMEM67 MKS1 IFT27 CEP290
15 photoreceptor connecting cilium GO:0032391 9.74 TTC8 CEP290 BBS4
16 MKS complex GO:0036038 9.69 TMEM67 MKS1 CEP290
17 pericentriolar material GO:0000242 9.58 BBS9 BBS4
18 cell projection GO:0042995 9.53 WDPCP TTC8 TMEM67 SDCCAG8 MKS1 IFT27

Biological processes related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.13 TTC8 IFT27 CEP290 BBS9 BBS7 BBS5
2 response to stimulus GO:0050896 10.08 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 ciliary basal body-plasma membrane docking GO:0097711 9.9 TMEM67 SDCCAG8 MKS1 CEP290
5 smoothened signaling pathway GO:0007224 9.87 WDPCP MKS1 IFT27 BBS7
6 heart looping GO:0001947 9.86 MKKS BBS7 BBS5 BBS4
7 protein localization GO:0008104 9.83 BBS7 BBS4 BBS2
8 cerebral cortex development GO:0021987 9.83 MKKS BBS4 BBS2
9 determination of left/right symmetry GO:0007368 9.82 MKS1 MKKS BBS7
10 hippocampus development GO:0021766 9.82 MKKS BBS4 BBS2
11 negative regulation of GTPase activity GO:0034260 9.81 TTC8 MKKS BBS4
12 retina homeostasis GO:0001895 9.81 BBS4 BBS10 BBS1
13 positive regulation of multicellular organism growth GO:0040018 9.8 MKKS BBS4 BBS2
14 intracellular transport GO:0046907 9.8 MKKS BBS7 BBS5 BBS4
15 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2
16 photoreceptor cell maintenance GO:0045494 9.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
17 fat cell differentiation GO:0045444 9.8 TTC8 TRIM32 MKKS BBS9 BBS7 BBS4
18 protein localization to cilium GO:0061512 9.79 BBS9 BBS4 BBS1
19 inner ear receptor cell stereocilium organization GO:0060122 9.78 TTC8 MKS1 IFT27
20 brain morphogenesis GO:0048854 9.77 MKKS BBS4 BBS2
21 cilium assembly GO:0060271 9.77 WDPCP TTC8 TMEM67 MKS1 MKKS CEP290
22 chaperone-mediated protein complex assembly GO:0051131 9.76 MKKS BBS12 BBS10
23 non-motile cilium assembly GO:1905515 9.76 TTC8 MKS1 MKKS BBS7 BBS4 BBS2
24 regulation of stress fiber assembly GO:0051492 9.75 TTC8 MKKS BBS4
25 striatum development GO:0021756 9.72 MKKS BBS4 BBS2
26 response to leptin GO:0044321 9.71 MKKS BBS4 BBS2
27 leptin-mediated signaling pathway GO:0033210 9.7 MKKS BBS4 BBS2
28 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 MKKS BBS4 BBS2
29 motile cilium assembly GO:0044458 9.68 MKS1 BBS5
30 face development GO:0060324 9.67 MKKS BBS4
31 vasodilation GO:0042311 9.67 MKKS BBS2
32 protein localization to organelle GO:0033365 9.67 BBS4 BBS2
33 negative regulation of actin filament polymerization GO:0030837 9.66 MKKS BBS4
34 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
35 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.63 MKKS BBS4 BBS2
36 sensory processing GO:0050893 9.62 TTC8 BBS4
37 pigment granule aggregation in cell center GO:0051877 9.61 MKKS BBS7
38 cell projection organization GO:0030030 9.44 WDPCP TTC8 TMEM67 SDCCAG8 MKS1 CEP290

Molecular functions related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 MKS1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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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