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 57 12 74 29 6 15 72
Bbs13 57 12 74
Bardet-Biedl Syndrome, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110135
MeSH 44 D020788
ICD10 33 Q87.89
MedGen 42 C2673873
UMLS 72 C2673873

Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : 74 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 bardet-biedl syndrome 12 and meckel syndrome, type 7. An important gene associated with Bardet-Biedl Syndrome 13 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include heart, and related phenotypes are obesity and intellectual disability

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

OMIM : 57 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 all 48)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 12 10.6 WDPCP BBS12
2 meckel syndrome, type 7 10.5 NPHP3 MKS1
3 joubert syndrome with ocular anomalies 10.4 MKS1 AHI1
4 meckel syndrome, type 2 10.4 TMEM67 MKS1
5 nephronophthisis 1 10.4 NPHP3 AHI1
6 polydactyly, postaxial, type a1 10.4 CC2D2A BBS12
7 bardet-biedl syndrome 11 10.3 TRIM32 BBS12
8 nonsyndromic retinitis pigmentosa 10.3 BBS2 BBS1
9 infantile nephronophthisis 10.2 TTC21B NPHP3
10 meckel syndrome, type 4 10.2 MKS1 CEP290
11 joubert syndrome 17 10.2 WDPCP CEP290
12 joubert syndrome with oculorenal anomalies 10.2 CEP290 CC2D2A
13 nephronophthisis 7 10.2 TRIM32 BBS1
14 bardet-biedl syndrome 3 10.1 BBS4 BBS2 BBS1
15 bardet-biedl syndrome 18 10.1 BBS4 BBS2 BBS1
16 bardet-biedl syndrome 4 10.1 BBS4 BBS2 BBS1
17 bardet-biedl syndrome 17 10.1 BBS4 BBS2 BBS1
18 bardet-biedl syndrome 19 10.1 BBS2 BBS10
19 congenital hepatic fibrosis 10.0 TMEM67 RPGRIP1L CC2D2A
20 coach syndrome 10.0 TMEM67 RPGRIP1L CC2D2A
21 cystic kidney disease 10.0 TMEM67 NPHP3 CC2D2A
22 retinal aplasia 10.0 SDCCAG8 CEP290
23 nephronophthisis 2 10.0 NPHP3 MKS1
24 mckusick-kaufman syndrome 9.9 BBS4 BBS2 BBS12 BBS1
25 bardet-biedl syndrome 6 9.8 BBS4 BBS2 BBS10 BBS1
26 bardet-biedl syndrome 8 9.8 BBS4 BBS2 BBS10 BBS1
27 nephronophthisis 16 9.8 SDCCAG8 CEP290
28 encephalocele 9.8 TMEM67 MKS1 CEP290 CC2D2A
29 bardet-biedl syndrome 1 9.7 CCDC28B BBS4 BBS2 BBS10 BBS1
30 bardet-biedl syndrome 16 9.6 SDCCAG8 CCDC28B BBS1 ALMS1
31 joubert syndrome 6 9.6 TMEM67 MKS1 CEP290 AHI1
32 alstrom syndrome 9.6 BBS2 BBS1 ALMS1
33 hydrolethalus syndrome 1 9.4 TMEM67 MKS1 BBS4 BBS2 AHI1
34 polydactyly 9.4 TTC21B MKS1 BBS4 BBS2 BBS10 BBS1
35 pathologic nystagmus 9.4 WDPCP TTC21B TMEM67 MKS1 CEP290 CCDC28B
36 meckel syndrome, type 3 9.3 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
37 meckel syndrome, type 6 9.2 WDPCP TMEM67 RPGRIP1L MKS1 CC2D2A AHI1
38 bardet-biedl syndrome 14 9.0 TMEM67 CEP290 BBS2 BBS12 BBS10 BBS1
39 leber congenital amaurosis 8.9 NPHP3 CEP290 ALMS1 AHI1
40 bardet-biedl syndrome 15 8.8 WDPCP TMEM67 RPGRIP1L NPHP3 CC2D2A BBS4
41 senior-loken syndrome 1 8.5 TTC21B TMEM67 SDCCAG8 NPHP3 MKS1 CEP290
42 nephronophthisis 11 8.5 TMEM67 SDCCAG8 RPGRIP1L NPHP3 CEP290 CC2D2A
43 joubert syndrome 1 8.1 WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
44 nephronophthisis 8.0 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP3 MKS1
45 meckel syndrome, type 1 7.8 WDPCP TTC21B TMEM67 RPGRIP1L MKS1 LOC105371841
46 fundus dystrophy 7.6 CEP290 CC2D2A BBS4 BBS2 BBS12 BBS10
47 retinitis pigmentosa 7.3 SDCCAG8 RPGRIP1L NPHP3 CEP290 CC2D2A BBS4
48 bardet-biedl syndrome 6.5 WDPCP TTC21B TRIM32 TMEM67 SDCCAG8 RPGRIP1L

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:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 rod-cone dystrophy 32 HP:0000510
5 polydactyly 32 HP:0010442

Symptoms via clinical synopsis from OMIM:

57
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:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.4 AHI1 ALMS1 BBS1 BBS10 BBS2 BBS4
3 behavior/neurological MP:0005386 10.32 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
4 homeostasis/metabolism MP:0005376 10.32 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
5 nervous system MP:0003631 10.3 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
6 craniofacial MP:0005382 10.29 BBS1 BBS4 CC2D2A CEP290 MKS1 NPHP3
7 cardiovascular system MP:0005385 10.22 BBS1 BBS4 CC2D2A CEP290 MKS1 NPHP3
8 renal/urinary system MP:0005367 10.22 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
9 mortality/aging MP:0010768 10.18 AHI1 BBS1 BBS10 BBS4 CC2D2A CEP290
10 digestive/alimentary MP:0005381 10.14 BBS2 BBS4 CC2D2A MKS1 RPGRIP1L SDCCAG8
11 adipose tissue MP:0005375 10.13 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
12 embryo MP:0005380 10.13 BBS4 CC2D2A MKS1 NPHP3 RPGRIP1L TMEM67
13 limbs/digits/tail MP:0005371 10.11 BBS1 BBS2 CC2D2A MKS1 RPGRIP1L SDCCAG8
14 hearing/vestibular/ear MP:0005377 10.04 ALMS1 BBS1 BBS4 CC2D2A MKS1 RPGRIP1L
15 liver/biliary system MP:0005370 9.98 ALMS1 BBS2 BBS4 CEP290 MKS1 RPGRIP1L
16 reproductive system MP:0005389 9.86 ALMS1 BBS1 BBS2 BBS4 CEP290 MKS1
17 respiratory system MP:0005388 9.7 BBS1 BBS4 CC2D2A CEP290 MKS1 RPGRIP1L
18 vision/eye MP:0005391 9.44 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
19 taste/olfaction MP:0005394 9.26 BBS1 BBS2 BBS4 CEP290

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:

41
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. 8 71
24608809 2014
2
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 8 71
18327255 2008
3
Bardet-Biedl Syndrome 38 71
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
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. 38
29633607 2018
6
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. 38
22004009 2012
7
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 38
21642631 2011
8
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 38
20177705 2010

Variations for Bardet-Biedl Syndrome 13

ClinVar genetic disease variations for Bardet-Biedl Syndrome 13:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MKS1 NM_017777.3(MKS1): c.1112_1114del (p.Phe371del) deletion Pathogenic rs587777804 17:56285517-56285519 17:58208156-58208158
2 MKS1 NM_017777.3(MKS1): c.1115_1117del (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 17:56285514-56285516 17:58208153-58208155
3 MKS1 NM_017777.3(MKS1): c.829G> T (p.Glu277Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1555599412 17:56290372-56290372 17:58213011-58213011
4 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 17:56292101-56292101 17:58214740-58214740
5 MKS1 NM_017777.3(MKS1): c.1025-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs794727070 17:56285946-56285946 17:58208585-58208585
6 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045706 17:56290357-56290357 17:58212996-58212996
7 MKS1 NM_017777.3(MKS1): c.508C> T (p.Arg170Ter) single nucleotide variant Likely pathogenic rs756853299 17:56292109-56292109 17:58214748-58214748
8 MKS1 NM_017777.3(MKS1): c.51_55dup (p.Asp19fs) duplication Likely pathogenic rs386834051 17:56296537-56296541 17:58219176-58219180
9 MKS1 NM_017777.3(MKS1): c.1434_1462del (p.Arg479fs) deletion Likely pathogenic rs1555596845 17:56283853-56283882 17:58206493-58206521
10 MKS1 NM_017777.3(MKS1): c.1408-2A> G single nucleotide variant Likely pathogenic rs1555596943 17:56283910-56283910 17:58206549-58206549
11 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 17:56296510-56296510 17:58219149-58219149
12 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 17:56288019-56288019 17:58210658-58210658
13 MKS1 NM_017777.3(MKS1): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1555601787 17:56296591-56296591 17:58219230-58219230
14 MKS1 NM_017777.3(MKS1): c.858+1G> A single nucleotide variant Likely pathogenic rs756102768 17:56290342-56290342 17:58212981-58212981
15 MKS1 NM_017777.3(MKS1): c.515+2T> G single nucleotide variant Likely pathogenic rs1376664664 17:56292100-56292100 17:58214739-58214739
16 MKS1 NM_017777.3(MKS1): c.190+2T> C single nucleotide variant Likely pathogenic rs375170572 17:56295979-56295979 17:58218618-58218618
17 MKS1 NM_017777.3(MKS1): c.1394del (p.Pro465fs) deletion Likely pathogenic rs865870355 17:56284459-56284459 17:58207098-58207098
18 MKS1 NM_017777.3(MKS1): c.367dup (p.Arg123fs) duplication Likely pathogenic rs775043799 17:56293499-56293499 17:58216138-58216138
19 MKS1 NM_017777.3(MKS1): c.1166-2A> G single nucleotide variant Likely pathogenic rs1488635637 17:56285364-56285364 17:58208003-58208003
20 MKS1 NM_017777.3(MKS1): c.184_190del (p.Thr62fs) deletion Likely pathogenic rs386834046 17:56295981-56295987 17:58218620-58218626
21 MKS1 NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745809472 17:56285906-56285906 17:58208545-58208545
22 MKS1 NM_017777.3(MKS1): c.80+14C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761061379 17:56296498-56296498 17:58219137-58219137
23 MKS1 NM_017777.3(MKS1): c.493C> T (p.Arg165Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779953982 17:56292124-56292124 17:58214763-58214763
24 MKS1 NM_017777.3(MKS1): c.233T> G (p.Ile78Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs786204222 17:56294055-56294055 17:58216694-58216694
25 MKS1 NM_017777.3(MKS1): c.1408-34_1408-6del deletion Conflicting interpretations of pathogenicity rs386834043 17:56283914-56283942 17:58206553-58206581
26 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 17:56293449-56293449 17:58216088-58216088
27 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 17:56283840-56283840 17:58206479-58206479
28 MKS1 NM_017777.3(MKS1): c.1407+3_1407+5delinsAAT indel Uncertain significance rs1555597194 17:56284440-56284443 17:58207080-58207082
29 MKS1 NM_017777.3(MKS1): c.-34_-12del deletion Uncertain significance rs1244307754 17:56296602-56296625 17:58219242-58219264
30 MKS1 NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys) single nucleotide variant Uncertain significance rs730882120 17:56284471-56284471 17:58207110-58207110
31 MKS1 NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln) single nucleotide variant Uncertain significance rs199910690 17:56283519-56283519 17:58206158-58206158
32 MKS1 NM_017777.3(MKS1): c.368G> A (p.Arg123Gln) single nucleotide variant Uncertain significance rs202112856 17:56293498-56293498 17:58216137-58216137
33 MKS1 NM_017777.3(MKS1): c.544G> A (p.Val182Ile) single nucleotide variant Uncertain significance rs200185068 17:56291720-56291720 17:58214359-58214359
34 MKS1 NM_017777.3(MKS1): c.823_825GAG[5] (p.Glu278dup) short repeat Uncertain significance rs780100856 17:56290366-56290366 17:58213006-58213008
35 MKS1 NM_017777.3(MKS1): c.1614del (p.Met539fs) deletion Uncertain significance rs1555596555 17:56283505-56283506 17:58206145-58206145
36 MKS1 NM_017777.3(MKS1): c.1531_1534del (p.Ser511fs) deletion Uncertain significance rs1555596710 17:56283697-56283701 17:58206337-58206340
37 MKS1 NM_017777.3(MKS1): c.857A> G (p.Asp286Gly) single nucleotide variant Uncertain significance rs151023718 17:56290344-56290344 17:58212983-58212983
38 MKS1 NM_017777.3(MKS1): c.1288_1314del (p.Thr430_Glu438del) deletion Uncertain significance rs1555597302 17:56284538-56284565 17:58207178-58207204
39 MKS1 NM_017777.3(MKS1): c.1621G> T (p.Glu541Ter) single nucleotide variant Uncertain significance rs1555596538 17:56283499-56283499 17:58206138-58206138
40 MKS1 NM_017777.3(MKS1): c.1497del (p.Phe499fs) deletion Uncertain significance rs780161503 17:56283734-56283735 17:58206374-58206374
41 MKS1 NM_017777.3(MKS1): c.1600C> T (p.Arg534Ter) single nucleotide variant Uncertain significance rs772719574 17:56283520-56283520 17:58206159-58206159
42 MKS1 NM_017777.3(MKS1): c.1331_1345del (p.Glu444_Phe449delinsVal) deletion Uncertain significance rs1555597266 17:56284507-56284522 17:58207147-58207161
43 MKS1 NM_017777.3(MKS1): c.1268C> T (p.Thr423Ile) single nucleotide variant Uncertain significance rs760184188 17:56285260-56285260 17:58207899-58207899
44 MKS1 NM_017777.3(MKS1): c.1076_1078CCA[1] (p.Thr360del) short repeat Uncertain significance rs1555598065 17:56285887-56285890 17:58208527-58208529
45 MKS1 NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu) single nucleotide variant Uncertain significance rs763534380 17:56285353-56285353 17:58207992-58207992
46 MKS1 NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys) single nucleotide variant Uncertain significance rs35464956 17:56283511-56283511 17:58206150-58206150
47 MKS1 NM_017777.3(MKS1): c.118C> T (p.His40Tyr) single nucleotide variant Uncertain significance rs199832333 17:56296053-56296053 17:58218692-58218692
48 MKS1 NM_017777.3(MKS1): c.110A> G (p.Asn37Ser) single nucleotide variant Uncertain significance rs587779734 17:56296061-56296061 17:58218700-58218700
49 MKS1 NM_017777.3(MKS1): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs753620277 17:56294074-56294074 17:58216713-58216713
50 MKS1 NM_017777.3(MKS1): c.1543C> T (p.Arg515Cys) single nucleotide variant Uncertain significance rs775558298 17:56283689-56283689 17:58206328-58206328

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

74
# 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

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 ciliary basal body GO:0036064 9.95 RPGRIP1L MKS1 CEP290 BBS4 BBS2 BBS1
2 centriole GO:0005814 9.93 SDCCAG8 MKS1 CEP290 BBS4 ALMS1 AHI1
3 cilium GO:0005929 9.83 WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
4 ciliary membrane GO:0060170 9.8 TMEM67 BBS4 BBS2 BBS1
5 cell-cell junction GO:0005911 9.75 SDCCAG8 RPGRIP1L AHI1
6 axoneme GO:0005930 9.73 WDPCP RPGRIP1L BBS1
7 ciliary transition zone GO:0035869 9.73 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A BBS4
8 MKS complex GO:0036038 9.72 TMEM67 MKS1 CEP290 CC2D2A AHI1
9 photoreceptor connecting cilium GO:0032391 9.71 RPGRIP1L CEP290 BBS4
10 centriolar satellite GO:0034451 9.69 SDCCAG8 CEP290 BBS4
11 BBSome GO:0034464 9.65 BBS4 BBS2 BBS1
12 non-motile cilium GO:0097730 9.57 BBS4 AHI1
13 cell projection GO:0042995 9.5 WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
14 cytoplasm GO:0005737 10.4 WDPCP TTC21B TRIM32 TMEM67 SDCCAG8 RPGRIP1L
15 cytosol GO:0005829 10.33 TRIM32 SDCCAG8 RPGRIP1L NPHP3 MKS1 CEP290
16 centrosome GO:0005813 10.07 TMEM67 SDCCAG8 RPGRIP1L MKS1 CEP290 CCDC28B
17 microtubule organizing center GO:0005815 10.03 RPGRIP1L MKS1 CEP290 CCDC28B BBS4 BBS2
18 cytoskeleton GO:0005856 10 WDPCP TTC21B TMEM67 SDCCAG8 RPGRIP1L MKS1

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.84 BBS4 BBS2 BBS10 BBS1
2 G2/M transition of mitotic cell cycle GO:0000086 9.83 SDCCAG8 CEP290 ALMS1
3 kidney development GO:0001822 9.81 WDPCP RPGRIP1L NPHP3
4 photoreceptor cell maintenance GO:0045494 9.8 NPHP3 BBS4 BBS2 BBS12 BBS10 BBS1
5 non-motile cilium assembly GO:1905515 9.8 RPGRIP1L MKS1 CC2D2A BBS4 BBS2 BBS10
6 neural tube closure GO:0001843 9.78 MKS1 CC2D2A BBS4
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.77 SDCCAG8 CEP290 ALMS1
8 ciliary basal body-plasma membrane docking GO:0097711 9.76 TMEM67 SDCCAG8 RPGRIP1L MKS1 CEP290 CC2D2A
9 fat cell differentiation GO:0045444 9.75 TRIM32 BBS4 BBS2
10 smoothened signaling pathway GO:0007224 9.73 WDPCP TTC21B CC2D2A
11 camera-type eye development GO:0043010 9.72 WDPCP RPGRIP1L CC2D2A
12 heart looping GO:0001947 9.7 NPHP3 BBS4 AHI1
13 adult behavior GO:0030534 9.67 BBS4 BBS2
14 Golgi to plasma membrane protein transport GO:0043001 9.67 BBS2 BBS1
15 motile cilium assembly GO:0044458 9.67 MKS1 CC2D2A
16 determination of left/right symmetry GO:0007368 9.67 RPGRIP1L NPHP3 MKS1 CC2D2A
17 melanosome transport GO:0032402 9.66 BBS4 BBS2
18 hindbrain development GO:0030902 9.66 CEP290 AHI1
19 brain morphogenesis GO:0048854 9.65 BBS4 BBS2
20 protein localization to organelle GO:0033365 9.65 BBS4 BBS2
21 cell projection organization GO:0030030 9.65 WDPCP TMEM67 MKS1 CEP290 CCDC28B CC2D2A
22 head development GO:0060322 9.64 RPGRIP1L MKS1
23 chaperone-mediated protein complex assembly GO:0051131 9.64 BBS12 BBS10
24 ventricular system development GO:0021591 9.63 TTC21B BBS4
25 retina homeostasis GO:0001895 9.63 BBS4 BBS10 BBS1
26 striatum development GO:0021756 9.62 BBS4 BBS2
27 regulation of stress fiber assembly GO:0051492 9.62 BBS4 ALMS1
28 embryonic brain development GO:1990403 9.61 MKS1 CC2D2A
29 protein localization to cilium GO:0061512 9.61 TTC21B BBS4 BBS1
30 response to leptin GO:0044321 9.6 BBS4 BBS2
31 photoreceptor cell outer segment organization GO:0035845 9.58 BBS4 AHI1
32 regulation of smoothened signaling pathway GO:0008589 9.58 TTC21B RPGRIP1L MKS1
33 leptin-mediated signaling pathway GO:0033210 9.57 BBS4 BBS2
34 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.51 BBS4 BBS2
35 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
36 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.48 BBS4 BBS2
37 cilium assembly GO:0060271 9.4 WDPCP TMEM67 RPGRIP1L NPHP3 MKS1 CEP290

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 9.83 TRIM32 TMEM67 SDCCAG8 RPGRIP1L NPHP3 MKS1
2 RNA polymerase II repressing transcription factor binding GO:0001103 8.92 BBS4 BBS2 BBS10 BBS1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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