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 75 29 6 15 73
Bbs13 57 12 75
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:

OMIM 57 615990
Disease Ontology 12 DOID:0110135
ICD10 33 Q87.89
MedGen 42 C2673873
MeSH 44 D020788
UMLS 73 C2673873

Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : 75 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 (Meckel Syndrome, Type 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, eye and kidney, 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 10.2 BBS12 WDPCP
2 meckel syndrome, type 7 10.2 MKS1 NPHP3
3 meckel syndrome, type 2 10.2 MKS1 TMEM67
4 polydactyly, postaxial, type a1 10.2 BBS12 CC2D2A
5 joubert syndrome with ocular anomalies 10.1 AHI1 MKS1
6 nephronophthisis 1 10.1 AHI1 NPHP3
7 bardet-biedl syndrome 11 10.1 BBS12 TRIM32
8 nonsyndromic retinitis pigmentosa 10.1 BBS1 BBS2
9 nephronophthisis 7 10.1 BBS1 TRIM32
10 joubert syndrome 17 10.1 CEP290 WDPCP
11 meckel syndrome, type 4 10.1 CEP290 MKS1
12 infantile nephronophthisis 10.1 NPHP3 TTC21B
13 joubert syndrome with oculorenal anomalies 10.1 CC2D2A CEP290
14 bardet-biedl syndrome 3 10.1 BBS1 BBS2 BBS4
15 bardet-biedl syndrome 18 10.1 BBS1 BBS2 BBS4
16 bardet-biedl syndrome 4 10.0 BBS1 BBS2 BBS4
17 bardet-biedl syndrome 17 10.0 BBS1 BBS2 BBS4
18 bardet-biedl syndrome 19 10.0 BBS10 BBS2
19 congenital hepatic fibrosis 10.0 CC2D2A RPGRIP1L TMEM67
20 coach syndrome 10.0 CC2D2A RPGRIP1L TMEM67
21 cystic kidney disease 10.0 CC2D2A NPHP3 TMEM67
22 retinal aplasia 10.0 CEP290 SDCCAG8
23 nephronophthisis 2 10.0 MKS1 NPHP3
24 mckusick-kaufman syndrome 10.0 BBS1 BBS12 BBS2 BBS4
25 bardet-biedl syndrome 6 9.9 BBS1 BBS10 BBS2 BBS4
26 bardet-biedl syndrome 8 9.9 BBS1 BBS10 BBS2 BBS4
27 nephronophthisis 16 9.9 CEP290 SDCCAG8
28 encephalocele 9.9 CC2D2A CEP290 MKS1 TMEM67
29 bardet-biedl syndrome 1 9.9 BBS1 BBS10 BBS2 BBS4 CCDC28B
30 bardet-biedl syndrome 16 9.9 ALMS1 BBS1 CCDC28B SDCCAG8
31 alstrom syndrome 9.8 ALMS1 BBS1 BBS2
32 joubert syndrome 6 9.8 AHI1 CEP290 MKS1 TMEM67
33 polydactyly 9.8 BBS1 BBS10 BBS2 BBS4 MKS1 TTC21B
34 hydrolethalus syndrome 1 9.7 AHI1 BBS2 BBS4 MKS1 TMEM67
35 pathologic nystagmus 9.7 CCDC28B CEP290 MKS1 TMEM67 TTC21B WDPCP
36 meckel syndrome, type 3 9.7 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
37 meckel syndrome, type 6 9.7 AHI1 CC2D2A MKS1 RPGRIP1L TMEM67 WDPCP
38 bardet-biedl syndrome 14 9.6 BBS1 BBS10 BBS12 BBS2 CEP290 TMEM67
39 bardet-biedl syndrome 15 9.6 BBS2 BBS4 CC2D2A NPHP3 RPGRIP1L TMEM67
40 leber congenital amaurosis 9.5 AHI1 ALMS1 CEP290 NPHP3
41 senior-loken syndrome 1 9.4 AHI1 CC2D2A CEP290 MKS1 NPHP3 SDCCAG8
42 nephronophthisis 11 9.4 AHI1 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8
43 joubert syndrome 1 9.2 AHI1 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
44 nephronophthisis 9.2 AHI1 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
45 meckel syndrome, type 1 9.2 AHI1 BBS1 BBS4 CC2D2A CEP290 MKS1
46 fundus dystrophy 9.0 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
47 retinitis pigmentosa 8.9 AHI1 BBS1 BBS10 BBS12 BBS2 BBS4
48 bardet-biedl syndrome 8.7 BBS1 BBS10 BBS12 BBS2 BBS4 CCDC28B

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

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

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

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, Eye, Kidney

Publications for Bardet-Biedl Syndrome 13

Variations for Bardet-Biedl Syndrome 13

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

75
# Symbol AA change Variation ID SNP ID
1 MKS1 p.Cys492Trp VAR_062292 rs137853105

ClinVar genetic disease variations for Bardet-Biedl Syndrome 13:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
2 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh38 Chromosome 17, 58219149: 58219149
3 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
4 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh38 Chromosome 17, 58210658: 58210658
5 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh37 Chromosome 17, 56293449: 56293449
6 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh38 Chromosome 17, 58216088: 58216088
7 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
8 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
9 MKS1 NM_017777.3(MKS1): c.1112_1114delTCT (p.Phe371del) deletion Pathogenic rs587777804 GRCh38 Chromosome 17, 58208156: 58208158
10 MKS1 NM_017777.3(MKS1): c.1112_1114delTCT (p.Phe371del) deletion Pathogenic rs587777804 GRCh37 Chromosome 17, 56285517: 56285519
11 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
12 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh38 Chromosome 17, 58218620: 58218626
13 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
14 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh38 Chromosome 17, 58214740: 58214740
15 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
16 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh38 Chromosome 17, 58219176: 58219180
17 MKS1 NM_017777.3(MKS1): c.110A> G (p.Asn37Ser) single nucleotide variant Uncertain significance rs587779734 GRCh37 Chromosome 17, 56296061: 56296061
18 MKS1 NM_017777.3(MKS1): c.110A> G (p.Asn37Ser) single nucleotide variant Uncertain significance rs587779734 GRCh38 Chromosome 17, 58218700: 58218700
19 MKS1 NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys) single nucleotide variant Uncertain significance rs730882120 GRCh38 Chromosome 17, 58207110: 58207110
20 MKS1 NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys) single nucleotide variant Uncertain significance rs730882120 GRCh37 Chromosome 17, 56284471: 56284471
21 MKS1 NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln) single nucleotide variant Uncertain significance rs199910690 GRCh38 Chromosome 17, 58206158: 58206158
22 MKS1 NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln) single nucleotide variant Uncertain significance rs199910690 GRCh37 Chromosome 17, 56283519: 56283519
23 MKS1 NM_017777.3(MKS1): c.1408-34_1408-6del29 deletion Conflicting interpretations of pathogenicity rs386834043 GRCh37 Chromosome 17, 56283914: 56283942
24 MKS1 NM_017777.3(MKS1): c.1408-34_1408-6del29 deletion Conflicting interpretations of pathogenicity rs386834043 GRCh38 Chromosome 17, 58206553: 58206581
25 MKS1 NM_017777.3(MKS1): c.233T> G (p.Ile78Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs786204222 GRCh37 Chromosome 17, 56294055: 56294055
26 MKS1 NM_017777.3(MKS1): c.233T> G (p.Ile78Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs786204222 GRCh38 Chromosome 17, 58216694: 58216694
27 MKS1 NM_017777.3(MKS1): c.1025-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs794727070 GRCh37 Chromosome 17, 56285946: 56285946
28 MKS1 NM_017777.3(MKS1): c.1025-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs794727070 GRCh38 Chromosome 17, 58208585: 58208585
29 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045706 GRCh37 Chromosome 17, 56290357: 56290357
30 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045706 GRCh38 Chromosome 17, 58212996: 58212996
31 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
32 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh38 Chromosome 17, 58208153: 58208155
33 MKS1 NM_017777.3(MKS1): c.493C> T (p.Arg165Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779953982 GRCh37 Chromosome 17, 56292124: 56292124
34 MKS1 NM_017777.3(MKS1): c.493C> T (p.Arg165Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779953982 GRCh38 Chromosome 17, 58214763: 58214763
35 MKS1 NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys) single nucleotide variant Uncertain significance rs35464956 GRCh37 Chromosome 17, 56283511: 56283511
36 MKS1 NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys) single nucleotide variant Uncertain significance rs35464956 GRCh38 Chromosome 17, 58206150: 58206150
37 MKS1 NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu) single nucleotide variant Uncertain significance rs763534380 GRCh38 Chromosome 17, 58207992: 58207992
38 MKS1 NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu) single nucleotide variant Uncertain significance rs763534380 GRCh37 Chromosome 17, 56285353: 56285353
39 MKS1 NM_017777.3(MKS1): c.508C> T (p.Arg170Ter) single nucleotide variant Likely pathogenic rs756853299 GRCh37 Chromosome 17, 56292109: 56292109
40 MKS1 NM_017777.3(MKS1): c.508C> T (p.Arg170Ter) single nucleotide variant Likely pathogenic rs756853299 GRCh38 Chromosome 17, 58214748: 58214748
41 MKS1 NM_017777.3(MKS1): c.1600C> A (p.Arg534=) single nucleotide variant Likely benign rs772719574 GRCh37 Chromosome 17, 56283520: 56283520
42 MKS1 NM_017777.3(MKS1): c.1600C> A (p.Arg534=) single nucleotide variant Likely benign rs772719574 GRCh38 Chromosome 17, 58206159: 58206159
43 MKS1 NM_017777.3(MKS1): c.1588+12C> G single nucleotide variant Likely benign rs762501967 GRCh37 Chromosome 17, 56283632: 56283632
44 MKS1 NM_017777.3(MKS1): c.1588+12C> G single nucleotide variant Likely benign rs762501967 GRCh38 Chromosome 17, 58206271: 58206271
45 MKS1 NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745809472 GRCh37 Chromosome 17, 56285906: 56285906
46 MKS1 NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745809472 GRCh38 Chromosome 17, 58208545: 58208545
47 MKS1 NM_017777.3(MKS1): c.771G> A (p.Lys257=) single nucleotide variant Likely benign rs886038632 GRCh37 Chromosome 17, 56290430: 56290430
48 MKS1 NM_017777.3(MKS1): c.771G> A (p.Lys257=) single nucleotide variant Likely benign rs886038632 GRCh38 Chromosome 17, 58213069: 58213069
49 MKS1 NM_017777.3(MKS1): c.80+14C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761061379 GRCh38 Chromosome 17, 58219137: 58219137
50 MKS1 NM_017777.3(MKS1): c.80+14C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761061379 GRCh37 Chromosome 17, 56296498: 56296498

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 AHI1 BBS1 BBS2 BBS4 CEP290 MKS1
2 centriole GO:0005814 9.93 AHI1 ALMS1 BBS4 CEP290 MKS1 SDCCAG8
3 cell projection GO:0042995 9.83 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
4 ciliary membrane GO:0060170 9.8 BBS1 BBS2 BBS4 TMEM67
5 MKS complex GO:0036038 9.77 AHI1 CC2D2A CEP290 MKS1 TMEM67
6 cell-cell junction GO:0005911 9.74 AHI1 RPGRIP1L SDCCAG8
7 axoneme GO:0005930 9.73 BBS1 RPGRIP1L WDPCP
8 ciliary transition zone GO:0035869 9.73 BBS4 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
9 photoreceptor connecting cilium GO:0032391 9.71 BBS4 CEP290 RPGRIP1L
10 centriolar satellite GO:0034451 9.7 BBS4 CEP290 SDCCAG8
11 BBSome GO:0034464 9.65 BBS1 BBS2 BBS4
12 non-motile cilium GO:0097730 9.58 AHI1 BBS4
13 cilium GO:0005929 9.5 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
14 cytoplasm GO:0005737 10.39 AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A
15 cytosol GO:0005829 10.33 AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A
16 microtubule organizing center GO:0005815 10.03 ALMS1 BBS1 BBS2 BBS4 CCDC28B CEP290
17 centrosome GO:0005813 10.02 AHI1 ALMS1 BBS1 BBS4 CCDC28B CEP290
18 cytoskeleton GO:0005856 10 AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A

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 BBS1 BBS10 BBS2 BBS4
2 G2/M transition of mitotic cell cycle GO:0000086 9.83 ALMS1 CEP290 SDCCAG8
3 kidney development GO:0001822 9.81 NPHP3 RPGRIP1L WDPCP
4 photoreceptor cell maintenance GO:0045494 9.8 BBS1 BBS10 BBS12 BBS2 BBS4 NPHP3
5 non-motile cilium assembly GO:1905515 9.8 BBS1 BBS10 BBS2 BBS4 CC2D2A MKS1
6 neural tube closure GO:0001843 9.77 BBS4 CC2D2A MKS1
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.77 ALMS1 CEP290 SDCCAG8
8 ciliary basal body-plasma membrane docking GO:0097711 9.76 AHI1 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L
9 fat cell differentiation GO:0045444 9.74 BBS2 BBS4 TRIM32
10 camera-type eye development GO:0043010 9.73 CC2D2A RPGRIP1L WDPCP
11 cilium assembly GO:0060271 9.73 AHI1 BBS1 BBS2 BBS4 CC2D2A CCDC28B
12 smoothened signaling pathway GO:0007224 9.72 CC2D2A TTC21B WDPCP
13 heart looping GO:0001947 9.7 AHI1 BBS4 NPHP3
14 adult behavior GO:0030534 9.67 BBS2 BBS4
15 Golgi to plasma membrane protein transport GO:0043001 9.67 BBS1 BBS2
16 motile cilium assembly GO:0044458 9.67 CC2D2A MKS1
17 determination of left/right symmetry GO:0007368 9.67 CC2D2A MKS1 NPHP3 RPGRIP1L
18 brain morphogenesis GO:0048854 9.66 BBS2 BBS4
19 hindbrain development GO:0030902 9.66 AHI1 CEP290
20 melanosome transport GO:0032402 9.65 BBS2 BBS4
21 protein localization to organelle GO:0033365 9.65 BBS2 BBS4
22 chaperone-mediated protein complex assembly GO:0051131 9.64 BBS10 BBS12
23 head development GO:0060322 9.64 MKS1 RPGRIP1L
24 regulation of stress fiber assembly GO:0051492 9.63 ALMS1 BBS4
25 retina homeostasis GO:0001895 9.63 BBS1 BBS10 BBS4
26 striatum development GO:0021756 9.62 BBS2 BBS4
27 ventricular system development GO:0021591 9.62 BBS4 TTC21B
28 embryonic brain development GO:1990403 9.61 CC2D2A MKS1
29 response to leptin GO:0044321 9.61 BBS2 BBS4
30 protein localization to cilium GO:0061512 9.61 BBS1 BBS4 TTC21B
31 photoreceptor cell outer segment organization GO:0035845 9.58 AHI1 BBS4
32 leptin-mediated signaling pathway GO:0033210 9.58 BBS2 BBS4
33 regulation of smoothened signaling pathway GO:0008589 9.58 MKS1 RPGRIP1L TTC21B
34 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.51 BBS2 BBS4
35 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.49 BBS2 BBS4
36 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.48 MKS1 NPHP3
37 cell projection organization GO:0030030 9.32 AHI1 BBS1 BBS2 BBS4 CC2D2A CCDC28B

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 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
2 RNA polymerase II repressing transcription factor binding GO:0001103 8.92 BBS1 BBS10 BBS2 BBS4

Sources for Bardet-Biedl Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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