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 nephronophthisis 1 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, kidney and eye, 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 : 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 72)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 10.5 MKS1 CC2D2B
2 encephalocele 10.3 MKS1 CEP290
3 joubert syndrome 6 10.3 MKS1 CEP290
4 joubert syndrome 7 10.3 MKS1 CEP290
5 leber congenital amaurosis 6 10.3 MKS1 CEP290
6 meckel syndrome, type 4 10.3 MKS1 CEP290
7 joubert syndrome 5 10.3 MKS1 CEP290
8 nonsyndromic retinitis pigmentosa 10.3 TTC8 BBS1
9 joubert syndrome 2 10.2 MKS1 CEP290
10 meckel syndrome, type 5 10.2 MKS1 CEP290 CC2D2B
11 nephronophthisis 14 10.2 CEP290 CC2D2B
12 meckel syndrome, type 2 10.2 MKS1 CEP290
13 bardet-biedl syndrome 12 10.2 WDPCP BBS12
14 pathologic nystagmus 10.1 MKS1 CEP290 BBS1
15 retinal aplasia 10.1 SDCCAG8 CEP290
16 joubert syndrome 4 10.1 MKS1 CEP290
17 obsolete: postaxial polydactyly of fingers 10.1 BBS10 BBIP1
18 nephronophthisis 13 10.1 SDCCAG8 CEP290
19 inherited retinal disorder 10.1 CEP290 BBS10 BBS1
20 meckel syndrome, type 3 10.1 MKS1 CEP290
21 cranioectodermal dysplasia 1 10.0 MKS1 CEP290 BBS9
22 nephronophthisis 16 10.0 SDCCAG8 CEP290
23 nephronophthisis 12 10.0 SDCCAG8 CEP290
24 borjeson-forssman-lehmann syndrome 10.0 BBS12 BBS10
25 nephronophthisis 11 10.0 SDCCAG8 MKS1 CEP290
26 nephronophthisis 7 10.0 SDCCAG8 MKS1 CEP290
27 bardet-biedl syndrome 4 10.0 CEP290 BBS4
28 nephronophthisis 9 10.0 SDCCAG8 MKS1 CEP290
29 joubert syndrome 3 10.0 WDPCP MKS1 CEP290
30 orofaciodigital syndrome vi 10.0 WDPCP MKS1 CEP290
31 ciliopathy 9.9 SDCCAG8 BBS7 BBS1
32 chromosome 2q35 duplication syndrome 9.9 WDPCP BBS10 BBS1
33 mckusick-kaufman syndrome 9.8 BBS7 BBS4 BBS12 BBS1
34 hydrolethalus syndrome 1 9.8 MKS1 CEP290
35 cystic kidney disease 9.8 MKS1 CEP290 BBS4 BBS1
36 simpson-golabi-behmel syndrome, type 2 9.8 SDCCAG8 CEP290 BBS4
37 meckel syndrome, type 6 9.8 WDPCP MKS1 CEP290 CC2D2B
38 coloboma of macula 9.8 SDCCAG8 MKS1 CEP290
39 physical disorder 9.8 MKS1 CEP290 BBS4 BBS1
40 nephronophthisis 2 9.8 SDCCAG8 MKS1 CEP290 BBS1
41 alstrom syndrome 9.7 CEP290 BBS7 BBS5 BBS10 BBS1
42 short-rib thoracic dysplasia 3 with or without polydactyly 9.7 WDPCP BBS10 BBIP1
43 orofaciodigital syndrome 9.6 WDPCP MKS1 CEP290 BBS4
44 polycystic kidney disease 4 with or without polycystic liver disease 9.6 SDCCAG8 MKS1 CEP290 BBS4
45 bardet-biedl syndrome 10 9.6 BBS7 BBS4 BBS12 BBS10 BBS1
46 visceral heterotaxy 9.6 MKS1 CEP290 BBS7 BBS4 BBS1
47 night blindness, congenital stationary, autosomal dominant 3 9.6 BBS9 BBS5 BBS4 BBS12 BBS10
48 renal-hepatic-pancreatic dysplasia 9.5 TRIM32 SDCCAG8 CEP290
49 retinal degeneration 9.5 CEP290 BBS7 BBS4 BBS10 BBS1
50 kartagener syndrome 9.4 SDCCAG8 MKS1 CEP290 BBS4 BBS1

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 obesity 31 HP:0001513
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
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 BBS4 BBS5
2 cellular MP:0005384 10.19 BBS1 BBS10 BBS12 BBS4 BBS7 CEP290
3 behavior/neurological MP:0005386 10.16 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
4 homeostasis/metabolism MP:0005376 10.13 BBS1 BBS10 BBS12 BBS4 BBS5 BBS7
5 nervous system MP:0003631 10.13 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
6 craniofacial MP:0005382 10.08 BBS1 BBS4 BBS7 CEP290 MKS1 SDCCAG8
7 mortality/aging MP:0010768 10.07 BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
8 adipose tissue MP:0005375 10 BBS1 BBS10 BBS12 BBS4 BBS5 BBS9
9 renal/urinary system MP:0005367 9.96 BBS1 BBS10 BBS12 BBS4 BBS7 CEP290
10 limbs/digits/tail MP:0005371 9.95 BBS1 BBS5 BBS7 BBS9 MKS1 SDCCAG8
11 respiratory system MP:0005388 9.63 BBS1 BBS4 CEP290 MKS1 TTC8 WDPCP
12 vision/eye MP:0005391 9.4 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
13 taste/olfaction MP:0005394 9.35 BBS1 BBS4 BBS7 CEP290 TTC8

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, Kidney, Eye, Liver

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. 56 6
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 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.814C>T (p.Arg272Ter)SNV Pathogenic/Likely pathogenic 211503 rs797045706 17:56290357-56290357 17:58212996-58212996
5 MKS1 NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu)SNV Pathogenic/Likely pathogenic 217672 rs773684291 17:56285320-56285320 17:58207959-58207959
6 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)deletion Pathogenic/Likely pathogenic 217677 rs754279998 17:56285514-56285516 17:58208153-58208155
7 MKS1 NM_001165927.1(MKS1):c.485+1G>ASNV Pathogenic/Likely pathogenic 56624 rs201933838 17:56292101-56292101 17:58214740-58214740
8 MKS1 NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter)SNV Pathogenic/Likely pathogenic 554581 rs1555599412 17:56290372-56290372 17:58213011-58213011
9 MKS1 NM_001165927.1(MKS1):c.50+232A>GSNV Likely pathogenic 558654 rs1555601787 17:56296591-56296591 17:58219230-58219230
10 MKS1 NM_001165927.1(MKS1):c.828+1G>ASNV Likely pathogenic 556312 rs756102768 17:56290342-56290342 17:58212981-58212981
11 MKS1 NM_001165927.1(MKS1):c.485+2T>GSNV Likely pathogenic 553842 rs1376664664 17:56292100-56292100 17:58214739-58214739
12 MKS1 NM_001165927.1(MKS1):c.160+2T>CSNV Likely pathogenic 550954 rs375170572 17:56295979-56295979 17:58218618-58218618
13 MKS1 NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs)deletion Likely pathogenic 557671 rs1555596845 17:56283854-56283882 17:58206493-58206521
14 MKS1 NM_001165927.1(MKS1):c.1378-2A>GSNV Likely pathogenic 556614 rs1555596943 17:56283910-56283910 17:58206549-58206549
15 MKS1 NM_001165927.1(MKS1):c.50+282_50+286dupduplication Likely pathogenic 56625 rs386834051 17:56296536-56296537 17:58219175-58219176
16 MKS1 NM_001165927.1(MKS1):c.1364del (p.Pro455fs)deletion Likely pathogenic 371771 rs865870355 17:56284459-56284459 17:58207098-58207098
17 MKS1 NM_001165927.1(MKS1):c.337dup (p.Arg113fs)duplication Likely pathogenic 371770 rs775043799 17:56293498-56293499 17:58216137-58216138
18 MKS1 NM_001165927.1(MKS1):c.1136-2A>GSNV Likely pathogenic 556907 rs1488635637 17:56285364-56285364 17:58208003-58208003
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.994+1G>ASNV Likely pathogenic 1391 rs199874059 17:56288019-56288019 17:58210658-58210658
21 MKS1 NM_001165927.1(MKS1):c.154_160del (p.Thr52fs)deletion Likely pathogenic 56619 rs386834046 17:56295981-56295987 17:58218620-58218626
22 MKS1 NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter)SNV Likely pathogenic 235405 rs756853299 17:56292109-56292109 17:58214748-58214748
23 MKS1 NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln)SNV Conflicting interpretations of pathogenicity 183012 rs199910690 17:56283519-56283519 17:58206158-58206158
24 MKS1 NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser)SNV Conflicting interpretations of pathogenicity 188334 rs786204222 17:56294055-56294055 17:58216694-58216694
25 MKS1 NM_001165927.1(MKS1):c.387G>A (p.Glu129=)SNV Conflicting interpretations of pathogenicity 1392 rs386834048 17:56293449-56293449 17:58216088-58216088
26 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)SNV Conflicting interpretations of pathogenicity 1393 rs137853105 17:56283840-56283840 17:58206479-58206479
27 MKS1 NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)SNV Conflicting interpretations of pathogenicity 217682 rs779953982 17:56292124-56292124 17:58214763-58214763
28 MKS1 NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys)SNV Conflicting interpretations of pathogenicity 220047 rs35464956 17:56283511-56283511 17:58206150-58206150
29 MKS1 NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala)SNV Conflicting interpretations of pathogenicity 260879 rs745809472 17:56285906-56285906 17:58208545-58208545
30 MKS1 NM_001165927.1(MKS1):c.50+325C>GSNV Conflicting interpretations of pathogenicity 324170 rs761061379 17:56296498-56296498 17:58219137-58219137
31 MKS1 NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys)SNV Uncertain significance 324158 rs775558298 17:56283689-56283689 17:58206328-58206328
32 MKS1 NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys)SNV Uncertain significance 324168 rs753620277 17:56294074-56294074 17:58216713-58216713
33 MKS1 NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys)SNV Uncertain significance 183011 rs730882120 17:56284471-56284471 17:58207110-58207110
34 MKS1 NM_001165927.1(MKS1):c.88C>T (p.His30Tyr)SNV Uncertain significance 281544 rs199832333 17:56296053-56296053 17:58218692-58218692
35 MKS1 NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser)SNV Uncertain significance 126271 rs587779734 17:56296061-56296061 17:58218700-58218700
36 MKS1 NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup)short repeat Uncertain significance 555649 rs780100856 17:56290366-56290367 17:58213005-58213006
37 MKS1 NM_001165927.1(MKS1):c.1584del (p.Met529fs)deletion Uncertain significance 554941 rs1555596555 17:56283506-56283506 17:58206145-58206145
38 MKS1 NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs)deletion Uncertain significance 551955 rs1555596710 17:56283698-56283701 17:58206337-58206340
39 MKS1 NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly)SNV Uncertain significance 445724 rs151023718 17:56290344-56290344 17:58212983-58212983
40 MKS1 NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del)deletion Uncertain significance 556256 rs1555597302 17:56284539-56284565 17:58207178-58207204
41 MKS1 NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu)SNV Uncertain significance 219658 rs763534380 17:56285353-56285353 17:58207992-58207992
42 MKS1 NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln)SNV Uncertain significance 235814 rs202112856 17:56293498-56293498 17:58216137-58216137
43 MKS1 NM_001165927.1(MKS1):c.514G>A (p.Val172Ile)SNV Uncertain significance 241188 rs200185068 17:56291720-56291720 17:58214359-58214359
44 MKS1 NM_001165927.1(MKS1):c.1377+3_1377+5delinsAATindel Uncertain significance 555057 rs1555597194 17:56284441-56284443 17:58207080-58207082
45 MKS1 NM_001165927.1(MKS1):c.50+198_50+220deldeletion Uncertain significance 557821 rs1244307754 17:56296603-56296625 17:58219242-58219264
46 MKS1 NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter)SNV Uncertain significance 551006 rs1555596538 17:56283499-56283499 17:58206138-58206138
47 MKS1 NM_001165927.1(MKS1):c.1467del (p.Phe489fs)deletion Uncertain significance 555641 rs780161503 17:56283735-56283735 17:58206374-58206374
48 MKS1 NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter)SNV Uncertain significance 554287 rs772719574 17:56283520-56283520 17:58206159-58206159
49 MKS1 NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal)deletion Uncertain significance 552912 rs1555597266 17:56284508-56284522 17:58207147-58207161
50 MKS1 NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile)SNV Uncertain significance 558281 rs760184188 17:56285260-56285260 17:58207899-58207899

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 SDCCAG8 MKS1 CEP290 BBS9 BBS7
2
Show member pathways
11.64 TTC8 BBS9 BBS7 BBS5 BBS4 BBS12

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 10.33 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 CEP290
2 cytosol GO:0005829 10.28 TTC8 TRIM32 SDCCAG8 MKS1 CEP290 BBS9
3 cytoskeleton GO:0005856 10.1 WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9
4 centrosome GO:0005813 10.02 TTC8 SDCCAG8 MKS1 CEP290 BBS7 BBS4
5 microtubule organizing center GO:0005815 9.97 TTC8 SDCCAG8 MKS1 CEP290 BBS9 BBS7
6 cell projection GO:0042995 9.97 WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9
7 ciliary basal body GO:0036064 9.86 TTC8 SDCCAG8 MKS1 CEP290 BBS7 BBS5
8 ciliary membrane GO:0060170 9.85 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
9 centriolar satellite GO:0034451 9.83 SDCCAG8 CEP290 BBS9 BBS5 BBS4
10 centriole GO:0005814 9.81 SDCCAG8 MKS1 CEP290 BBS4
11 axoneme GO:0005930 9.8 WDPCP BBS7 BBS5 BBS1
12 ciliary transition zone GO:0035869 9.76 MKS1 CEP290 BBS9 BBS4
13 photoreceptor connecting cilium GO:0032391 9.7 TTC8 CEP290 BBS4
14 non-motile cilium GO:0097730 9.58 TTC8 BBS4
15 pericentriolar material GO:0000242 9.57 BBS9 BBS4
16 MKS complex GO:0036038 9.56 MKS1 CEP290
17 BBSome GO:0034464 9.5 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
18 cilium GO:0005929 9.4 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.93 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
2 protein transport GO:0015031 9.92 TTC8 CEP290 BBS9 BBS7 BBS5 BBS4
3 visual perception GO:0007601 9.85 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
4 ciliary basal body-plasma membrane docking GO:0097711 9.73 SDCCAG8 MKS1 CEP290
5 smoothened signaling pathway GO:0007224 9.72 WDPCP MKS1 BBS7
6 heart looping GO:0001947 9.71 BBS7 BBS5 BBS4
7 photoreceptor cell maintenance GO:0045494 9.71 BBS4 BBS12 BBS10 BBS1
8 retina homeostasis GO:0001895 9.7 BBS4 BBS10 BBS1
9 intracellular transport GO:0046907 9.67 BBS7 BBS5 BBS4
10 protein localization to cilium GO:0061512 9.65 BBS9 BBS4 BBS1
11 fat cell differentiation GO:0045444 9.65 TTC8 TRIM32 BBS9 BBS7 BBS4
12 cilium assembly GO:0060271 9.65 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7
13 non-motile cilium assembly GO:1905515 9.63 TTC8 MKS1 BBS7 BBS4 BBS10 BBS1
14 melanosome transport GO:0032402 9.61 BBS7 BBS5 BBS4
15 inner ear receptor cell stereocilium organization GO:0060122 9.59 TTC8 MKS1
16 motile cilium assembly GO:0044458 9.58 MKS1 BBS5
17 chaperone-mediated protein complex assembly GO:0051131 9.58 BBS12 BBS10
18 regulation of stress fiber assembly GO:0051492 9.57 TTC8 BBS4
19 sensory processing GO:0050893 9.51 TTC8 BBS4
20 cell projection organization GO:0030030 9.36 WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9

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 SDCCAG8 MKS1 CEP290
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 TTC8 BBS7 BBS5 BBS4 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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