BBS7
MCID: BRD019
MIFTS: 43

Bardet-Biedl Syndrome 7 (BBS7)

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 7

MalaCards integrated aliases for Bardet-Biedl Syndrome 7:

Name: Bardet-Biedl Syndrome 7 56 12 52 73 29 6 15 17 71
Bbs7 56 12 73
Bardet-Biedl Syndrome, Type 7 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided on patients with bbs7 mutations


HPO:

31
bardet-biedl syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110129
OMIM 56 615984
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859565
UMLS 71 C1859565

Summaries for Bardet-Biedl Syndrome 7

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 7: 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 7, also known as bbs7, is related to polydactyly and asphyxiating thoracic dystrophy. An important gene associated with Bardet-Biedl Syndrome 7 is BBS7 (Bardet-Biedl Syndrome 7), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Salmonella infection (KEGG). Affiliated tissues include heart, testes and prostate, and related phenotypes are intellectual disability and obesity

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS7 gene on chromosome 4q27.

OMIM : 56 BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615984)

Related Diseases for Bardet-Biedl Syndrome 7

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

(showing 60, show less)
# Related Disease Score Top Affiliating Genes
1 polydactyly 31.7 TCTEX1D2 DYNC2I2 DYNC2I1 BBS7
2 asphyxiating thoracic dystrophy 31.0 TCTEX1D2 DYNC2I2 DYNC2I1 BBS7
3 bardet-biedl syndrome 4 29.7 RGS9BP GUCA1B
4 bardet-biedl syndrome 11.9
5 retinal degeneration 11.6
6 bardet-biedl syndrome 1 11.6
7 retinitis pigmentosa 11.6
8 ciliopathy 11.6
9 mckusick-kaufman syndrome 11.5
10 fundus dystrophy 11.5
11 inherited retinal disorder 11.5
12 bardet-biedl syndrome 8 11.4
13 bardet-biedl syndrome 17 11.4
14 bardet-biedl syndrome 3 11.4
15 bardet-biedl syndrome 6 11.4
16 bardet-biedl syndrome 11 11.4
17 bardet-biedl syndrome 13 11.4
18 bardet-biedl syndrome 14 11.4
19 bardet-biedl syndrome 15 11.4
20 bardet-biedl syndrome 16 11.4
21 bardet-biedl syndrome 18 11.4
22 bardet-biedl syndrome 19 11.4
23 tetralogy of fallot 11.2
24 meckel syndrome, type 1 11.2
25 retinal disease 11.2
26 alstrom syndrome 11.1
27 visceral heterotaxy 11.1
28 nephronophthisis 11.1
29 bardet-biedl syndrome 2 10.3
30 bardet-biedl syndrome 12 10.3
31 neuroretinitis 10.3
32 retinitis 10.3
33 bardet-biedl syndrome 5 10.2
34 bardet-biedl syndrome 9 10.2
35 bardet-biedl syndrome 10 10.2
36 hydrocephalus, congenital, 1 10.0
37 nephronophthisis 1 10.0
38 bardet-biedl syndrome 20 10.0
39 bardet-biedl syndrome 21 10.0
40 autosomal recessive disease 10.0
41 cone dystrophy 10.0
42 male infertility 10.0
43 hypogonadism 10.0
44 learning disability 10.0
45 short-rib thoracic dysplasia 7 with or without polydactyly 9.9 TCTEX1D2 DYNC2I1
46 short-rib thoracic dysplasia 4 with or without polydactyly 9.8 TCTEX1D2 DYNC2I1
47 retinitis pigmentosa 3 9.8 TCTEX1D4 DYNLT3 DYNC1LI2
48 orofaciodigital syndrome iv 9.7 DYNC2I2 DYNC2I1
49 short rib-polydactyly syndrome 9.6 DYNC2I2 DYNC2I1
50 short-rib thoracic dysplasia 8 with or without polydactyly 9.6 TCTEX1D2 DYNC2I2 DYNC2I1
51 short-rib thoracic dysplasia 12 9.6 TCTEX1D2 DYNC2I2 DYNC2I1
52 short-rib thoracic dysplasia 6 with or without polydactyly 9.6 TCTEX1D2 DYNC2I2 DYNC2I1
53 cleft lip/palate 9.5 TCTEX1D2 DYNC2I2 DYNC2I1
54 cranioectodermal dysplasia 1 9.5 TCTEX1D2 DYNC2I2 DYNC2I1
55 short-rib thoracic dysplasia 3 with or without polydactyly 9.5 TCTEX1D2 DYNC2I2 DYNC2I1
56 ellis-van creveld syndrome 9.5 TCTEX1D2 DYNC2I2 DYNC2I1
57 nephronophthisis 4 9.5 RGS9BP KDM4C GUCA1B
58 weyers acrofacial dysostosis 9.4 DYNC2I2 DYNC2I1
59 retinitis pigmentosa 7 9.4 RGS9BP GUCA1B
60 short-rib thoracic dysplasia 11 with or without polydactyly 9.4 TCTEX1D2 DYNLL2 DYNC2I2 DYNC2I1

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 7:



Diseases related to Bardet-Biedl Syndrome 7

Symptoms & Phenotypes for Bardet-Biedl Syndrome 7

Human phenotypes related to Bardet-Biedl Syndrome 7:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 obesity 31 HP:0001513
3 rod-cone dystrophy 31 HP:0000510
4 polydactyly 31 HP:0010442
5 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Genitourinary Kidneys:
renal abnormalities

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation

Genitourinary External Genitalia Male:
hypogenitalism

Clinical features from OMIM:

615984

Drugs & Therapeutics for Bardet-Biedl Syndrome 7

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 7

Genetic Tests for Bardet-Biedl Syndrome 7

Genetic tests related to Bardet-Biedl Syndrome 7:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 7 29 BBS7

Anatomical Context for Bardet-Biedl Syndrome 7

MalaCards organs/tissues related to Bardet-Biedl Syndrome 7:

40
Heart, Testes, Prostate

Publications for Bardet-Biedl Syndrome 7

Articles related to Bardet-Biedl Syndrome 7:

(showing 56, show less)
# Title Authors PMID Year
1
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 61 6 56
12567324 2003
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 56
19797195 2010
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 56
19252258 2009
6
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome. 61
32448990 2020
7
Exome-Wide Rare Loss-of-Function Variant Enrichment Study of 21,347 Han Chinese Individuals Identifies Four Susceptibility Genes for Psoriasis. 61
31376382 2020
8
RIN2 and BBS7 variants as cause of a coincidental syndrome. 61
31521835 2020
9
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. 61
31788832 2020
10
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. 61
31469663 2020
11
Structure and activation mechanism of the BBSome membrane protein trafficking complex. 61
31939736 2020
12
Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. 61
31589838 2019
13
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. 61
31530639 2019
14
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
15
Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation. 61
31336923 2019
16
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. 61
30839500 2019
17
[Progress of research on Bardet-Biedl syndrome]. 61
29653013 2018
18
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
19
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death. 61
28641477 2018
20
Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells. 61
29021280 2017
21
Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network. 61
28370415 2017
22
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 61
28761321 2017
23
Fine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population. 61
27538457 2016
24
Expansion of phenotype and genotypic data in CRB2-related syndrome. 61
27004616 2016
25
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
26
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 61
26518167 2015
27
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. 61
26557828 2015
28
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. 61
25937446 2015
29
Preclinical pharmacokinetic, biodistribution, imaging and therapeutic efficacy of (177)Lu-Labeled glycated bombesin analogue for gastrin-releasing peptide receptor-positive prostate tumor targeting. 61
25498002 2015
30
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. 61
25553308 2015
31
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 61
26325687 2015
32
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. 61
24938409 2014
33
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
34
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]. 61
25241976 2014
35
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis. 61
23807208 2014
36
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. 61
23572516 2013
37
A genome-wide scan of selective sweeps in two broiler chicken lines divergently selected for abdominal fat content. 61
23241142 2012
38
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
39
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
40
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. 61
22228099 2012
41
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. 61
22302990 2012
42
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
43
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 61
19402160 2009
44
Novel interaction partners of Bardet-Biedl syndrome proteins. 61
18000879 2008
45
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 61
19093007 2008
46
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
47
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006
48
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
49
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61
15770229 2005
50
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
51
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
52
[Update on Bardet-Biedl syndrome]. 61
15767906 2005
53
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? 61
15266619 2004
54
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 61
15155861 2004
55
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. 61
12872256 2003
56
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 61
12677556 2003

Variations for Bardet-Biedl Syndrome 7

ClinVar genetic disease variations for Bardet-Biedl Syndrome 7:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS7 NM_176824.3(BBS7):c.500_501insTATGAG (p.Gln168_Asp169insMetSer)insertion Pathogenic 812119 4:122780174-122780175 4:121859019-121859020
2 BBS7 NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)SNV Pathogenic 915420 4:122770053-122770053 4:121848898-121848898
3 BBS7 NM_176824.3(BBS7):c.968A>G (p.His323Arg)SNV Pathogenic 3015 rs119466001 4:122768628-122768628 4:121847473-121847473
4 BBS7 NM_176824.3(BBS7):c.709_712del (p.Lys237fs)deletion Pathogenic 3017 rs587777812 4:122775865-122775868 4:121854710-121854713
5 BBS7 NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)deletion Pathogenic 30680 rs587777836 4:122754465-122754470 4:121833310-121833315
6 BBS7 NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)indel Pathogenic 162088 rs672601379 4:122749347-122749348 4:121828192-121828193
7 BBS7 NM_176824.3(BBS7):c.389_390del (p.Asn130fs)deletion Pathogenic 216138 rs863224530 4:122780285-122780286 4:121859130-121859131
8 BBS7 NM_176824.3(BBS7):c.949C>G (p.Leu317Val)SNV Pathogenic 217436 rs869025207 4:122768647-122768647 4:121847492-121847492
9 BBS7 NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs)short repeat Pathogenic/Likely pathogenic 804446 4:122789150-122789151 4:121867995-121867996
10 BBS7 NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)SNV Likely pathogenic 522733 rs761403504 4:122774241-122774241 4:121853086-121853086
11 BBS7 NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)SNV Likely pathogenic 522666 rs1221499782 4:122784412-122784412 4:121863257-121863257
12 BBS7 NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)SNV Conflicting interpretations of pathogenicity 531839 rs111442398 4:122765152-122765152 4:121843997-121843997
13 BBS7 NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)SNV Conflicting interpretations of pathogenicity 166739 rs202102193 4:122782720-122782720 4:121861565-121861565
14 BBS7 NM_176824.3(BBS7):c.171G>A (p.Val57=)SNV Conflicting interpretations of pathogenicity 462966 rs144525608 4:122782829-122782829 4:121861674-121861674
15 BBS7 NM_176824.3(BBS7):c.1158A>G (p.Thr386=)SNV Conflicting interpretations of pathogenicity 286968 rs146617227 4:122766731-122766731 4:121845576-121845576
16 BBS7 NM_176824.3(BBS7):c.1505A>G (p.His502Arg)SNV Conflicting interpretations of pathogenicity 347482 rs114718913 4:122756305-122756305 4:121835150-121835150
17 BBS7 NM_176824.3(BBS7):c.1311C>T (p.Asn437=)SNV Conflicting interpretations of pathogenicity 347484 rs199812109 4:122760846-122760846 4:121839691-121839691
18 BBS7 NM_176824.3(BBS7):c.1891-2A>CSNV Conflicting interpretations of pathogenicity 375301 rs1057519027 4:122749426-122749426 4:121828271-121828271
19 BBS7 NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)SNV Uncertain significance 347480 rs201096775 4:122749373-122749373 4:121828218-121828218
20 BBS7 NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)SNV Uncertain significance 347481 rs143700362 4:122754459-122754459 4:121833304-121833304
21 BBS7 NM_176824.3(BBS7):c.*304A>CSNV Uncertain significance 347477 rs886059052 4:122746711-122746711 4:121825556-121825556
22 BBS7 NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)SNV Uncertain significance 347489 rs542274936 4:122791458-122791458 4:121870303-121870303
23 BBS7 NM_176824.3(BBS7):c.*1526C>TSNV Uncertain significance 347463 rs546122158 4:122745489-122745489 4:121824334-121824334
24 BBS7 NM_176824.3(BBS7):c.*996T>CSNV Uncertain significance 347469 rs886059049 4:122746019-122746019 4:121824864-121824864
25 BBS7 NM_176824.3(BBS7):c.*273T>CSNV Uncertain significance 347478 rs190252263 4:122746742-122746742 4:121825587-121825587
26 BBS7 NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr)SNV Uncertain significance 347483 rs886059053 4:122756368-122756368 4:121835213-121835213
27 BBS7 NM_176824.3(BBS7):c.651G>A (p.Ala217=)SNV Uncertain significance 347486 rs750691939 4:122775926-122775926 4:121854771-121854771
28 BBS7 NM_176824.3(BBS7):c.*709G>CSNV Uncertain significance 347472 rs886059050 4:122746306-122746306 4:121825151-121825151
29 BBS7 NM_176824.3(BBS7):c.*605G>ASNV Uncertain significance 347474 rs886059051 4:122746410-122746410 4:121825255-121825255
30 BBS7 NM_176824.3(BBS7):c.*1324G>ASNV Uncertain significance 347464 rs181687808 4:122745691-122745691 4:121824536-121824536
31 BBS7 NM_176824.3(BBS7):c.*1139T>CSNV Uncertain significance 347468 rs542533305 4:122745876-122745876 4:121824721-121824721
32 BBS7 NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)SNV Uncertain significance 347485 rs758567781 4:122765153-122765153 4:121843998-121843998
33 BBS7 NM_176824.3(BBS7):c.*513C>TSNV Uncertain significance 347475 rs577071672 4:122746502-122746502 4:121825347-121825347
34 BBS7 NM_176824.3(BBS7):c.587A>G (p.His196Arg)SNV Uncertain significance 347487 rs886059054 4:122776658-122776658 4:121855503-121855503
35 BBS7 NM_176824.3(BBS7):c.487C>T (p.Pro163Ser)SNV Uncertain significance 347488 rs370690441 4:122780188-122780188 4:121859033-121859033
36 BBS7 NM_176824.3(BBS7):c.-19G>CSNV Uncertain significance 347490 rs757523715 4:122791487-122791487 4:121870332-121870332
37 BBS7 NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)SNV Uncertain significance 434498 rs150743868 4:122756435-122756435 4:121835280-121835280
38 BBS7 NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)SNV Uncertain significance 188236 rs370656021 4:122747100-122747100 4:121825945-121825945
39 BBS7 NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)SNV Uncertain significance 631936 rs1470030897 4:122756352-122756352 4:121835197-121835197
40 BBS7 NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)SNV Uncertain significance 836199 4:122756429-122756429 4:121835274-121835274
41 BBS7 NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)SNV Uncertain significance 838538 4:122765124-122765124 4:121843969-121843969
42 BBS7 NM_176824.3(BBS7):c.*1361A>TSNV Uncertain significance 899852 4:122745654-122745654 4:121824499-121824499
43 BBS7 NM_176824.3(BBS7):c.*1161A>GSNV Uncertain significance 899853 4:122745854-122745854 4:121824699-121824699
44 BBS7 NM_176824.3(BBS7):c.*828A>GSNV Uncertain significance 900969 4:122746187-122746187 4:121825032-121825032
45 BBS7 NM_176824.3(BBS7):c.*724C>TSNV Uncertain significance 900970 4:122746291-122746291 4:121825136-121825136
46 BBS7 NM_176824.3(BBS7):c.*353G>ASNV Uncertain significance 901583 4:122746662-122746662 4:121825507-121825507
47 BBS7 NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)SNV Uncertain significance 903519 4:122749596-122749596 4:121828441-121828441
48 BBS7 NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)SNV Uncertain significance 903520 4:122756324-122756324 4:121835169-121835169
49 BBS7 NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)SNV Uncertain significance 899915 4:122760823-122760823 4:121839668-121839668
50 BBS7 NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)SNV Uncertain significance 901038 4:122770037-122770037 4:121848882-121848882
51 BBS7 NM_176824.3(BBS7):c.600C>T (p.Gly200=)SNV Uncertain significance 901039 4:122776645-122776645 4:121855490-121855490
52 BBS7 NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)SNV Uncertain significance 901040 4:122782669-122782669 4:121861514-121861514
53 BBS7 NM_176824.3(BBS7):c.-98C>TSNV Uncertain significance 901638 4:122791566-122791566 4:121870411-121870411
54 BBS7 NM_176824.3(BBS7):c.-137A>GSNV Uncertain significance 901639 4:122791605-122791605 4:121870450-121870450
55 BBS7 NM_176824.3(BBS7):c.1890+15C>TSNV Uncertain significance 903518 4:122749542-122749542 4:121828387-121828387
56 BBS7 NM_176824.3(BBS7):c.1306-5C>TSNV Uncertain significance 899916 4:122760856-122760856 4:121839701-121839701
57 BBS7 NM_176824.3(BBS7):c.1512-7A>TSNV Benign/Likely benign 166737 rs115987385 4:122754557-122754557 4:121833402-121833402
58 BBS7 NM_176824.3(BBS7):c.-133C>GSNV Benign 347491 rs2271176 4:122791601-122791601 4:121870446-121870446
59 BBS7 NM_176824.3(BBS7):c.*419T>ASNV Benign 347476 rs3762840 4:122746596-122746596 4:121825441-121825441
60 BBS7 NM_176824.3(BBS7):c.*1286G>ASNV Benign 347465 rs1507996 4:122745729-122745729 4:121824574-121824574
61 BBS7 NM_176824.3(BBS7):c.*1202G>ASNV Benign 347467 rs3217756 4:122745813-122745813 4:121824658-121824658
62 BBS7 NM_176824.3(BBS7):c.*932T>GSNV Benign 347470 rs3217755 4:122746083-122746083 4:121824928-121824928
63 BBS7 NM_176824.3(BBS7):c.*690T>CSNV Benign 347473 rs3217753 4:122746325-122746325 4:121825170-121825170
64 BBS7 NM_176824.3(BBS7):c.*250T>GSNV Benign 347479 rs80171619 4:122746765-122746765 4:121825610-121825610
65 BBS7 NM_176824.3(BBS7):c.1891-12C>ASNV Benign 262922 rs2706793 4:122749436-122749436 4:121828281-121828281

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 7:

73 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 BBS7 p.Thr211Ile VAR_017212 rs119466002
2 BBS7 p.His323Arg VAR_017213 rs119466001
3 BBS7 p.Ile66Phe VAR_038893
4 BBS7 p.Gly63Arg VAR_066286 rs754579374

Expression for Bardet-Biedl Syndrome 7

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 7.

Pathways for Bardet-Biedl Syndrome 7

Pathways related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 7, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 TCTEX1D2 DYNLL2 DYNC2I2 DYNC2I1 BBS7
2 11.86 DYNLT3 DYNLL2 DYNC1LI2
3
Show member pathways
11.43 DYNLT3 DYNLL2 DYNC1LI2
4 11.31 DYNLT3 DYNLL2 DYNC1LI2
5 11.05 DYNLL2 DYNC1LI2
6 10.77 DYNLL2 DYNC1LI2
7 10.54 TCTEX1D2 DYNLL2 DYNC2I2 DYNC2I1

GO Terms for Bardet-Biedl Syndrome 7

Cellular components related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.8 TCTEX1D2 DYNLL2 DYNC2I1 DYNC1LI2 BBS7
2 cilium GO:0005929 9.76 DYNLL2 DYNC2I2 DYNC2I1 BBS7
3 photoreceptor outer segment GO:0001750 9.61 RGS9BP GUCA1B BBS7
4 ciliary tip GO:0097542 9.54 DYNLL2 DYNC2I2 DYNC2I1
5 ciliary base GO:0097546 9.48 TCTEX1D2 DYNC2I1
6 dynein complex GO:0030286 9.33 DYNLT3 DYNLL2 DYNC1LI2
7 ciliary plasm GO:0097014 9.32 DYNC2I2 DYNC2I1
8 interphase microtubule organizing center GO:0031021 9.26 TCTEX1D2 DYNC2I1
9 axoneme GO:0005930 9.26 TCTEX1D4 TCTEX1D2 DYNC2I2 BBS7
10 cytoplasmic dynein complex GO:0005868 9.1 TCTEX1D2 DYNLT3 DYNLL2 DYNC2I2 DYNC2I1 DYNC1LI2

Biological processes related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.56 RGS9BP MYO9A GUCA1B BBS7
2 microtubule-based movement GO:0007018 9.5 DYNC2I2 DYNC2I1 DYNC1LI2
3 cilium assembly GO:0060271 9.46 TCTEX1D2 DYNC2I2 DYNC2I1 BBS7
4 intraciliary transport GO:0042073 9.37 DYNC2I2 DYNC2I1
5 positive regulation of ATP-dependent microtubule motor activity, plus-end-directed GO:2000582 8.96 DYNLL2 DYNC2I1
6 intraciliary transport involved in cilium assembly GO:0035735 8.8 DYNLL2 DYNC2I2 DYNC2I1

Molecular functions related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.26 TCTEX1D2 DYNLL2
2 motor activity GO:0003774 9.26 MYO9A DYNLT3 DYNLL2 DYNC1LI2
3 dynein light chain binding GO:0045503 9.16 DYNC2I2 DYNC2I1
4 dynein heavy chain binding GO:0045504 8.8 DYNC2I2 DYNC2I1 DYNC1LI2

Sources for Bardet-Biedl Syndrome 7

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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