BBS13
MCID: BRD033
MIFTS: 44

Bardet-Biedl Syndrome 13 (BBS13)

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 13

MalaCards integrated aliases for Bardet-Biedl Syndrome 13:

Name: Bardet-Biedl Syndrome 13 56 12 73 29 6 15 71
Bbs13 56 12 73
Bardet-Biedl Syndrome, Type 13 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided for patients with mks1 mutations (last curated october 2014)


HPO:

31
bardet-biedl syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110135
OMIM 56 615990
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C2673873
UMLS 71 C2673873

Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 13: 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 13, also known as bbs13, is related to joubert syndrome 6 and encephalocele. An important gene associated with Bardet-Biedl Syndrome 13 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.

OMIM : 56 BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615990)

Related Diseases for Bardet-Biedl Syndrome 13

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 6 10.3 MKS1 CEP290
2 encephalocele 10.3 MKS1 CEP290
3 leber congenital amaurosis 6 10.3 MKS1 CEP290
4 joubert syndrome 9 10.3 MKS1 CEP290
5 joubert syndrome 7 10.3 MKS1 CEP290
6 nephronophthisis 7 10.3 MKS1 CEP290
7 joubert syndrome 2 10.2 MKS1 CEP290
8 nephronophthisis 16 10.2 MKS1 CEP290
9 meckel syndrome, type 4 10.2 MKS1 CEP290
10 joubert syndrome 5 10.2 MKS1 CEP290
11 nephronophthisis 14 10.2 MKS1 CEP290 CC2D2B
12 meckel syndrome, type 5 10.2 MKS1 CEP290 CC2D2B
13 simpson-golabi-behmel syndrome, type 2 10.2 CEP290 BBS4
14 meckel syndrome, type 2 10.1 MKS1 CEP290
15 meckel syndrome, type 3 10.1 MKS1 CEP290 BBS1
16 polycystic kidney disease 10.1 BBS5 BBS4 BBS1
17 nephronophthisis 9 10.1 MKS1 CEP290
18 bardet-biedl syndrome 12 10.1 WDPCP BBS12
19 asphyxiating thoracic dystrophy 10.0 CEP290 BBS7 BBS1
20 borjeson-forssman-lehmann syndrome 10.0 BBS12 BBS10
21 bardet-biedl syndrome 9 10.0 TTC8 BBS9
22 orofaciodigital syndrome vi 9.9 WDPCP MKS1 CEP290
23 orofaciodigital syndrome 9.9 WDPCP MKS1 CEP290
24 pathologic nystagmus 9.9 WDPCP MKS1 CEP290
25 nephronophthisis 2 9.9 MKS1 CEP290 BBS4 BBS1
26 retinitis pigmentosa 74 9.8 TTC8 BBS2
27 joubert syndrome 13 9.8 CEP290 BBS2
28 ciliopathy 9.8 BBS7 BBS1
29 joubert syndrome 4 9.7 MKS1 CEP290 BBS2
30 meckel syndrome, type 6 9.7 WDPCP MKS1 CEP290 CC2D2B
31 coach syndrome 9.7 MKS1 CEP290 BBS2
32 nonsyndromic retinitis pigmentosa 9.7 TTC8 BBS2 BBS1
33 night blindness, congenital stationary, autosomal dominant 3 9.5 BBS9 BBS5 BBS4 BBS12 BBS10
34 retinal degeneration 9.5 CEP290 BBS7 BBS4 BBS10 BBS1
35 tetralogy of fallot 9.3 BBS7 BBS4 BBS2 BBS1
36 bardet-biedl syndrome 10 9.2 BBS4 BBS2 BBS12 BBS10 BBS1
37 polycystic kidney disease 4 with or without polycystic liver disease 9.2 MKS1 CEP290 BBS4 BBS2 BBS1
38 cystic kidney disease 9.2 MKS1 CEP290 BBS4 BBS2 BBS1
39 physical disorder 9.2 MKS1 CEP290 BBS4 BBS2 BBS1
40 kartagener syndrome 9.2 MKS1 CEP290 BBS4 BBS2 BBS1
41 primary ciliary dyskinesia 9.0 MKS1 CEP290 BBS5 BBS4 BBS2 BBS1
42 visceral heterotaxy 9.0 MKS1 CEP290 BBS7 BBS4 BBS2 BBS1
43 joubert syndrome 1 8.9 MKS1 CEP290 CC2D2B BBS5 BBS4 BBS2
44 body mass index quantitative trait locus 11 8.7 TTC8 BBS4 BBS2 BBS1 BBIP1
45 senior-loken syndrome 1 8.6 MKS1 CEP290 BBS5 BBS4 BBS2 BBS12
46 nephronophthisis 8.6 MKS1 CEP290 CC2D2B BBS7 BBS5 BBS4
47 alstrom syndrome 8.6 CEP290 BBS7 BBS5 BBS4 BBS2 BBS12
48 mckusick-kaufman syndrome 8.5 TTC8 BBS7 BBS5 BBS4 BBS2 BBS12
49 cranioectodermal dysplasia 1 8.5 MKS1 CEP290 BBS9 BBS4 BBS2 BBS1
50 inherited retinal disorder 8.5 CEP290 BBS9 BBS7 BBS5 BBS2 BBS12

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 13:



Diseases related to Bardet-Biedl Syndrome 13

Symptoms & Phenotypes for Bardet-Biedl Syndrome 13

Human phenotypes related to Bardet-Biedl Syndrome 13:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 obesity 31 HP:0001513
4 rod-cone dystrophy 31 HP:0000510
5 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation
delayed development

Clinical features from OMIM:

615990

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 13:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 behavior/neurological MP:0005386 10.21 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
3 cellular MP:0005384 10.19 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
4 nervous system MP:0003631 10.18 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.13 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 adipose tissue MP:0005375 10.07 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7 craniofacial MP:0005382 10.02 BBS1 BBS4 BBS7 CEP290 MKS1 TTC8
8 renal/urinary system MP:0005367 10.02 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
9 limbs/digits/tail MP:0005371 9.88 BBS1 BBS2 BBS7 BBS9 MKS1 WDPCP
10 reproductive system MP:0005389 9.86 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
11 respiratory system MP:0005388 9.63 BBS1 BBS4 CEP290 MKS1 TTC8 WDPCP
12 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 CEP290 TTC8
13 vision/eye MP:0005391 9.36 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4

Drugs & Therapeutics for Bardet-Biedl Syndrome 13

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 13

Genetic Tests for Bardet-Biedl Syndrome 13

Genetic tests related to Bardet-Biedl Syndrome 13:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 13 29 MKS1

Anatomical Context for Bardet-Biedl Syndrome 13

MalaCards organs/tissues related to Bardet-Biedl Syndrome 13:

40
Heart

Publications for Bardet-Biedl Syndrome 13

Articles related to Bardet-Biedl Syndrome 13:

# Title Authors PMID Year
1
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 6 56
24608809 2014
2
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 56 6
18327255 2008
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
5
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. 61
29633607 2018
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
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010

Variations for Bardet-Biedl Syndrome 13

ClinVar genetic disease variations for Bardet-Biedl Syndrome 13:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MKS1 NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del)deletion Pathogenic 1394 rs587777804 17:56285517-56285519 17:58208156-58208158
2 MKS1 NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs)duplication Pathogenic/Likely pathogenic 56617 rs386834044 17:56283862-56283863 17:58206501-58206502
3 MKS1 NM_001165927.1(MKS1):c.995-2A>CSNV Pathogenic/Likely pathogenic 194102 rs794727070 17:56285946-56285946 17:58208585-58208585
4 MKS1 NM_001165927.1(MKS1):c.994+1G>ASNV Pathogenic/Likely pathogenic 1391 rs199874059 17:56288019-56288019 17:58210658-58210658
5 MKS1 NM_001165927.1(MKS1):c.485+1G>ASNV Pathogenic/Likely pathogenic 56624 rs201933838 17:56292101-56292101 17:58214740-58214740
6 MKS1 NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter)SNV Pathogenic/Likely pathogenic 211503 rs797045706 17:56290357-56290357 17:58212996-58212996
7 MKS1 NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu)SNV Pathogenic/Likely pathogenic 217672 rs773684291 17:56285320-56285320 17:58207959-58207959
8 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)deletion Pathogenic/Likely pathogenic 217677 rs754279998 17:56285514-56285516 17:58208153-58208155
9 MKS1 NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter)SNV Pathogenic/Likely pathogenic 235405 rs756853299 17:56292109-56292109 17:58214748-58214748
10 MKS1 NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter)SNV Pathogenic/Likely pathogenic 554581 rs1555599412 17:56290372-56290372 17:58213011-58213011
11 MKS1 NM_001165927.1(MKS1):c.50+232A>GSNV Likely pathogenic 558654 rs1555601787 17:56296591-56296591 17:58219230-58219230
12 MKS1 NM_001165927.1(MKS1):c.828+1G>ASNV Likely pathogenic 556312 rs756102768 17:56290342-56290342 17:58212981-58212981
13 MKS1 NM_001165927.1(MKS1):c.485+2T>GSNV Likely pathogenic 553842 rs1376664664 17:56292100-56292100 17:58214739-58214739
14 MKS1 NM_001165927.1(MKS1):c.160+2T>CSNV Likely pathogenic 550954 rs375170572 17:56295979-56295979 17:58218618-58218618
15 MKS1 NM_001165927.1(MKS1):c.1136-2A>GSNV Likely pathogenic 556907 rs1488635637 17:56285364-56285364 17:58208003-58208003
16 MKS1 NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs)deletion Likely pathogenic 557671 rs1555596845 17:56283854-56283882 17:58206493-58206521
17 MKS1 NM_001165927.1(MKS1):c.1378-2A>GSNV Likely pathogenic 556614 rs1555596943 17:56283910-56283910 17:58206549-58206549
18 MKS1 NM_001165927.1(MKS1):c.50+282_50+286dupduplication Likely pathogenic 56625 rs386834051 17:56296536-56296537 17:58219175-58219176
19 MKS1 NM_001165927.1(MKS1):c.50+313T>CSNV Likely pathogenic 1390 rs386834052 17:56296510-56296510 17:58219149-58219149
20 MKS1 NM_001165927.1(MKS1):c.154_160del (p.Thr52fs)deletion Likely pathogenic 56619 rs386834046 17:56295981-56295987 17:58218620-58218626
21 MKS1 NM_001165927.1(MKS1):c.1364del (p.Pro455fs)deletion Likely pathogenic 371771 rs865870355 17:56284459-56284459 17:58207098-58207098
22 MKS1 NM_001165927.1(MKS1):c.337dup (p.Arg113fs)duplication Likely pathogenic 371770 rs775043799 17:56293498-56293499 17:58216137-58216138
23 MKS1 NM_001165927.1(MKS1):c.50+258C>TSNV Conflicting interpretations of pathogenicity 324171 rs369488349 17:56296565-56296565 17:58219204-58219204
24 MKS1 NM_001165927.1(MKS1):c.50+168T>CSNV Conflicting interpretations of pathogenicity 324172 rs372127517 17:56296655-56296655 17:58219294-58219294
25 MKS1 NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln)SNV Conflicting interpretations of pathogenicity 286884 rs201619500 17:56284465-56284465 17:58207104-58207104
26 MKS1 NM_001165927.1(MKS1):c.50+325C>GSNV Conflicting interpretations of pathogenicity 324170 rs761061379 17:56296498-56296498 17:58219137-58219137
27 MKS1 NM_001165927.1(MKS1):c.461G>A (p.Arg154His)SNV Conflicting interpretations of pathogenicity 324166 rs200149256 17:56292126-56292126 17:58214765-58214765
28 MKS1 NM_001165927.1(MKS1):c.614+8G>TSNV Conflicting interpretations of pathogenicity 324165 rs370117125 17:56291612-56291612 17:58214251-58214251
29 MKS1 NM_001165927.1(MKS1):c.783C>T (p.His261=)SNV Conflicting interpretations of pathogenicity 324162 rs201961765 17:56290388-56290388 17:58213027-58213027
30 MKS1 NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln)SNV Conflicting interpretations of pathogenicity 183012 rs199910690 17:56283519-56283519 17:58206158-58206158
31 MKS1 NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser)SNV Conflicting interpretations of pathogenicity 188334 rs786204222 17:56294055-56294055 17:58216694-58216694
32 MKS1 NM_001165927.1(MKS1):c.1476G>A (p.Ser492=)SNV Conflicting interpretations of pathogenicity 194770 rs368535131 17:56283726-56283726 17:58206365-58206365
33 MKS1 NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu)SNV Conflicting interpretations of pathogenicity 196477 rs142813109 17:56294075-56294075 17:58216714-58216714
34 MKS1 NM_001165927.1(MKS1):c.1406G>A (p.Arg469His)SNV Conflicting interpretations of pathogenicity 211502 rs111315726 17:56283880-56283880 17:58206519-58206519
35 MKS1 NM_017777.4(MKS1):c.417G>A (p.Glu139=)SNV Conflicting interpretations of pathogenicity 1392 rs386834048 17:56293449-56293449 17:58216088-58216088
36 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)SNV Conflicting interpretations of pathogenicity 1393 rs137853105 17:56283840-56283840 17:58206479-58206479
37 MKS1 NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala)SNV Conflicting interpretations of pathogenicity 260879 rs745809472 17:56285906-56285906 17:58208545-58208545
38 MKS1 NM_001165927.1(MKS1):c.984G>A (p.Leu328=)SNV Conflicting interpretations of pathogenicity 260878 rs201998680 17:56288030-56288030 17:58210669-58210669
39 MKS1 NM_001165927.1(MKS1):c.485+12C>TSNV Conflicting interpretations of pathogenicity 260885 rs372527189 17:56292090-56292090 17:58214729-58214729
40 MKS1 NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr)SNV Conflicting interpretations of pathogenicity 281123 rs200865108 17:56284504-56284504 17:58207143-58207143
41 MKS1 NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)SNV Conflicting interpretations of pathogenicity 217682 rs779953982 17:56292124-56292124 17:58214763-58214763
42 MKS1 NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys)SNV Conflicting interpretations of pathogenicity 220047 rs35464956 17:56283511-56283511 17:58206150-58206150
43 MKS1 NM_001165927.1(MKS1):c.1468A>G (p.Met490Val)SNV Conflicting interpretations of pathogenicity 241187 rs144635826 17:56283734-56283734 17:58206373-58206373
44 MKS1 NM_017777.4(MKS1):c.1209G>A (p.Ser403=)SNV Conflicting interpretations of pathogenicity 698586 17:56285319-56285319 17:58207958-58207958
45 MKS1 NM_017777.4(MKS1):c.729G>A (p.Thr243=)SNV Conflicting interpretations of pathogenicity 700059 17:56291146-56291146 17:58213785-58213785
46 MKS1 NM_017777.4(MKS1):c.*134C>TSNV Conflicting interpretations of pathogenicity 888910 17:56283306-56283306 17:58205945-58205945
47 MKS1 NM_017777.4(MKS1):c.*49C>ASNV Uncertain significance 890608 17:56283391-56283391 17:58206030-58206030
48 MKS1 NM_017777.4(MKS1):c.1598G>A (p.Arg533His)SNV Uncertain significance 890609 17:56283522-56283522 17:58206161-58206161
49 MKS1 NM_017777.4(MKS1):c.498G>T (p.Arg166=)SNV Uncertain significance 889020 17:56292119-56292119 17:58214758-58214758
50 MKS1 NM_017777.4(MKS1):c.447C>T (p.Ser149=)SNV Uncertain significance 889716 17:56292170-56292170 17:58214809-58214809

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 13:

73
# Symbol AA change Variation ID SNP ID
1 MKS1 p.Cys492Trp VAR_062292 rs137853105

Expression for Bardet-Biedl Syndrome 13

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 13.

Pathways for Bardet-Biedl Syndrome 13

Pathways related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 TTC8 MKS1 CEP290 BBS9 BBS7 BBS5
2
Show member pathways
11.68 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2

GO Terms for Bardet-Biedl Syndrome 13

Cellular components related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 WDPCP TTC8 TRIM32 MKS1 CEP290 BBS9
2 cytosol GO:0005829 10.24 TTC8 TRIM32 MKS1 CEP290 BBS9 BBS7
3 cytoskeleton GO:0005856 10.1 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7
4 microtubule organizing center GO:0005815 10.02 TTC8 MKS1 CEP290 BBS9 BBS7 BBS5
5 cell projection GO:0042995 9.97 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7
6 centrosome GO:0005813 9.93 TTC8 MKS1 CEP290 BBS7 BBS4 BBS1
7 ciliary basal body GO:0036064 9.92 TTC8 MKS1 CEP290 BBS7 BBS5 BBS4
8 ciliary membrane GO:0060170 9.8 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 centriole GO:0005814 9.74 MKS1 CEP290 BBS4
10 ciliary transition zone GO:0035869 9.73 MKS1 CEP290 BBS9 BBS4
11 axoneme GO:0005930 9.72 WDPCP BBS7 BBS1
12 centriolar satellite GO:0034451 9.69 CEP290 BBS9 BBS4
13 photoreceptor connecting cilium GO:0032391 9.65 TTC8 CEP290 BBS4
14 non-motile cilium GO:0097730 9.58 TTC8 BBS4
15 pericentriolar material GO:0000242 9.56 BBS9 BBS4
16 BBSome GO:0034464 9.56 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
17 MKS complex GO:0036038 9.54 MKS1 CEP290
18 cilium GO:0005929 9.44 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7

Biological processes related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.02 TTC8 CEP290 BBS9 BBS7 BBS5 BBS4
2 response to stimulus GO:0050896 10 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
3 visual perception GO:0007601 9.87 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
4 photoreceptor cell maintenance GO:0045494 9.8 BBS4 BBS2 BBS12 BBS10 BBS1
5 protein localization GO:0008104 9.73 BBS7 BBS4 BBS2
6 melanosome transport GO:0032402 9.73 BBS7 BBS5 BBS4 BBS2
7 fat cell differentiation GO:0045444 9.73 TTC8 TRIM32 BBS9 BBS7 BBS4 BBS2
8 heart looping GO:0001947 9.71 BBS7 BBS5 BBS4
9 non-motile cilium assembly GO:1905515 9.7 TTC8 MKS1 BBS7 BBS4 BBS2 BBS10
10 cilium assembly GO:0060271 9.7 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7
11 intracellular transport GO:0046907 9.67 BBS7 BBS5 BBS4
12 protein localization to cilium GO:0061512 9.65 BBS9 BBS4 BBS1
13 positive regulation of multicellular organism growth GO:0040018 9.64 BBS4 BBS2
14 adult behavior GO:0030534 9.63 BBS4 BBS2
15 Golgi to plasma membrane protein transport GO:0043001 9.63 BBS2 BBS1
16 inner ear receptor cell stereocilium organization GO:0060122 9.62 TTC8 MKS1
17 motile cilium assembly GO:0044458 9.62 MKS1 BBS5
18 protein localization to organelle GO:0033365 9.61 BBS4 BBS2
19 brain morphogenesis GO:0048854 9.61 BBS4 BBS2
20 chaperone-mediated protein complex assembly GO:0051131 9.6 BBS12 BBS10
21 regulation of stress fiber assembly GO:0051492 9.59 TTC8 BBS4
22 striatum development GO:0021756 9.58 BBS4 BBS2
23 response to leptin GO:0044321 9.58 BBS4 BBS2
24 leptin-mediated signaling pathway GO:0033210 9.57 BBS4 BBS2
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.55 BBS4 BBS2
26 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.52 BBS4 BBS2
27 sensory processing GO:0050893 9.51 TTC8 BBS4
28 cell projection organization GO:0030030 9.36 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7

Molecular functions related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 WDPCP TTC8 TRIM32 MKS1 CEP290 BBS9
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.17 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

Sources for Bardet-Biedl Syndrome 13

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
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34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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