Bardet-Biedl Syndrome 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRD044 MIFTS: 45	Bardet-Biedl Syndrome 17 Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Bardet-Biedl Syndrome 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

Name: Bardet-Biedl Syndrome 17 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Bbs17 ⁵⁷ ¹² ⁷⁵

Bardet-Biedl Syndrome, Type 17 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated october 2014)

HPO:

³²

bardet-biedl syndrome 17:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615994

Disease Ontology ¹² DOID:0110139

ICD10 ³³ Q87.89

MedGen ⁴² C3714980 CN220306

MeSH ⁴⁴ D020788

SNOMED-CT via HPO ⁶⁹ 258211005 48130008 95695004 more

UMLS ⁷³ C3714980

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Summaries for Bardet-Biedl Syndrome 17

OMIM : ⁵⁷ BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615994)

MalaCards based summary : Bardet-Biedl Syndrome 17, also known as bbs17, is related to polydactyly and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 17 is LZTFL1 (Leucine Zipper Transcription Factor Like 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Wnt / Hedgehog / Notch. Affiliated tissues include heart and kidney, and related phenotypes are renal cyst and hypogonadism

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.

UniProtKB/Swiss-Prot : ⁷⁵ Bardet-Biedl syndrome 17: 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.

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Related Diseases for Bardet-Biedl Syndrome 17

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

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	polydactyly	28.9	BBS1 BBS2 BBS4 SHH
2	bardet-biedl syndrome	28.1	BBS1 BBS2 BBS4 BBS7 BBS9 LOC107986083
3	nonsyndromic retinitis pigmentosa	10.6	BBS1 BBS2
4	bardet-biedl syndrome 14	10.4	BBS1 BBS2 BBS9
5	bardet-biedl syndrome 6	10.4	BBS1 BBS2 BBS4
6	bardet-biedl syndrome 4	10.4	BBS1 BBS2 BBS4
7	bardet-biedl syndrome 13	10.4	BBS1 BBS2 BBS4
8	lymphatic malformations	10.3	PKD1 PKD2
9	multicystic dysplastic kidney	10.3	PKD1 PKD2
10	polycystic kidney disease 3 with or without polycystic liver disease	10.2	PKD1 PKD2
11	bardet-biedl syndrome 8	10.2	BBS1 BBS2 BBS4 BBS7
12	mckusick-kaufman syndrome	10.2	BBS1 BBS2 BBS4 BBS7
13	bardet-biedl syndrome 18	10.2	BBS1 BBS2 BBS4 BBS7
14	bardet-biedl syndrome 5	10.1	BBS2 RHO
15	tetralogy of fallot	10.1	BBS1 BBS2 BBS4 BBS7
16	holoprosencephaly, recurrent infections, and monocytosis	10.0	GLI2 PTCH1
17	calcifying epithelial odontogenic tumor	10.0	GLI2 PTCH1
18	nodular medulloblastoma	9.9	GLI2 PTCH1
19	bardet-biedl syndrome 3	9.9	BBS1 BBS2 BBS4 BBS7 BBS9
20	bardet-biedl syndrome 2	9.8
21	bardet-biedl syndrome 10	9.8
22	bardet-biedl syndrome 11	9.8
23	bardet-biedl syndrome 12	9.8
24	central polydactyly	9.8
25	polycystic liver disease 1 with or without kidney cysts	9.6	PKD1 PKD2 PTCH1
26	bardet-biedl syndrome 1	9.6	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
27	autosomal genetic disease	9.6	PKD1 PKD2 PTCH1
28	pallister-hall syndrome	9.5	GLI2 SHH
29	fundus dystrophy	9.2	BBS1 BBS2 BBS4 PROM1 RHO
30	septopreoptic holoprosencephaly	9.1	GLI2 PTCH1 SHH
31	midline interhemispheric variant of holoprosencephaly	9.1	GLI2 PTCH1 SHH
32	alobar holoprosencephaly	9.1	GLI2 PTCH1 SHH
33	lobar holoprosencephaly	9.1	GLI2 PTCH1 SHH
34	microform holoprosencephaly	9.1	GLI2 PTCH1 SHH
35	semilobar holoprosencephaly	9.1	GLI2 PTCH1 SHH
36	integumentary system cancer	9.1	GLI2 PTCH1 SHH
37	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	9.1	GLI2 SHH
38	basal cell nevus syndrome	9.0	GLI2 PTCH1 SHH
39	trehalase deficiency	8.6	GLI2 PKD1 PKD2 PTCH1 STXBP1
40	holoprosencephaly	8.6	GLI2 PTCH1 SHH
41	infratentorial cancer	8.5	GLI2 PROM1 PTCH1 SHH
42	medulloblastoma	8.1	GLI2 PROM1 PTCH1 SHH

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 17:

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Symptoms & Phenotypes for Bardet-Biedl Syndrome 17

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Head And Neck Eyes:
retinal degeneration
cone-rod dystrophy

Genitourinary Kidneys:
chronic renal failure
cystic kidneys

Cardiovascular Heart:
dextrocardia (in some patients)

Neurologic Central Nervous System:
cognitive impairment
learning disabilities
delayed development

Skeletal Hands:
brachydactyly
mesoaxial polydactyly
polydactyly

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615994

Human phenotypes related to Bardet-Biedl Syndrome 17:

³² (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	renal cyst ³²		HP:0000107
2	hypogonadism ³²		HP:0000135
3	retinal degeneration ³²		HP:0000546
4	cone/cone-rod dystrophy ³²		HP:0000548
5	brachydactyly ³²		HP:0001156
6	global developmental delay ³²		HP:0001263
7	obesity ³²		HP:0001513
8	situs inversus totalis ³²	occasional (7.5%)	HP:0001696
9	external genital hypoplasia ³²		HP:0003241
10	stage 5 chronic kidney disease ³²		HP:0003774
11	mesoaxial polydactyly ³²		HP:0100260
12	cognitive impairment ³²		HP:0100543

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

⁴⁶ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.34	BBS1 BBS4 BBS2 BBS7 DRD1 PKD1
2	behavior/neurological	MP:0005386	10.32	BBS7 BBS1 BBS4 BBS2 GLI2 DRD1
3	growth/size/body region	MP:0005378	10.29	BBS7 BBS1 BBS4 BBS2 LZTFL1 DRD1
4	cardiovascular system	MP:0005385	10.27	BBS7 BBS1 BBS4 DRD1 PKD1 PTCH1
5	homeostasis/metabolism	MP:0005376	10.24	BBS2 BBS1 BBS4 PKD1 GLI2 BBS7
6	nervous system	MP:0003631	10.22	BBS1 BBS4 BBS2 BBS7 LZTFL1 DRD1
7	mortality/aging	MP:0010768	10.21	BBS1 BBS4 GLI2 BBS7 DRD1 PKD1
8	digestive/alimentary	MP:0005381	10.19	BBS4 BBS2 BBS7 PKD2 DRD1 PKD1
9	adipose tissue	MP:0005375	10.13	BBS2 BBS1 BBS4 LZTFL1 DRD1 PKD1
10	craniofacial	MP:0005382	10.09	BBS1 BBS4 GLI2 BBS7 PKD1 PTCH1
11	integument	MP:0010771	10.08	BBS2 BBS4 GLI2 LZTFL1 DRD1 PKD1
12	embryo	MP:0005380	10.07	BBS4 PKD1 GLI2 BBS7 PTCH1 PKD2
13	normal	MP:0002873	10.02	BBS2 BBS4 GLI2 DRD1 PKD1 PTCH1
14	limbs/digits/tail	MP:0005371	10	BBS2 BBS1 GLI2 BBS7 PKD1 PTCH1
15	renal/urinary system	MP:0005367	9.92	BBS7 BBS1 BBS4 BBS2 PKD1 PKD2
16	reproductive system	MP:0005389	9.86	BBS2 BBS1 BBS4 PKD1 GLI2 BBS7
17	respiratory system	MP:0005388	9.76	BBS1 BBS4 GLI2 DRD1 PKD1 PTCH1
18	taste/olfaction	MP:0005394	9.43	BBS1 BBS4 BBS2 BBS7 SHH PTCH1
19	vision/eye	MP:0005391	9.36	BBS1 BBS4 BBS2 BBS7 LZTFL1 DRD1

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Drugs & Therapeutics for Bardet-Biedl Syndrome 17

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 17

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Genetic Tests for Bardet-Biedl Syndrome 17

Genetic tests related to Bardet-Biedl Syndrome 17:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 17 ²⁹	LZTFL1

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Anatomical Context for Bardet-Biedl Syndrome 17

MalaCards organs/tissues related to Bardet-Biedl Syndrome 17:

⁴¹

Heart, Kidney

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Publications for Bardet-Biedl Syndrome 17

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Genes for Bardet-Biedl Syndrome 17

Genes related to Bardet-Biedl Syndrome 17 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	1337.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22510444 17163542 23692385
2	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	17.11	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	16.85	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	STX3	Syntaxin 3	Protein Coding	16.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	15.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	15.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	15.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	STXBP1	Syntaxin Binding Protein 1	Protein Coding	15.25	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	DRD1	Dopamine Receptor D1	Protein Coding	15.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	14.92	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	14.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	GLI2	GLI Family Zinc Finger 2	Protein Coding	14.61	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	RHO	Rhodopsin	Protein Coding	14.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	PTCH1	Patched 1	Protein Coding	13.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	SHH	Sonic Hedgehog	Protein Coding	13.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	PROM1	Prominin 1	Protein Coding	13.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	LOC107986083	Uncharacterized LOC107986083	RNA Gene	7.78	GeneCards inferred via : Variants (show sections)

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Variations for Bardet-Biedl Syndrome 17

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 17:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	LZTFL1	p.Leu87Pro	VAR_070104	rs515726135

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LZTFL1	NM_020347.3(LZTFL1): c.402_406delAAAGC (p.Pro136Thrfs)	deletion	Pathogenic	rs431825171	GRCh37	Chromosome 3, 45874592: 45874596
2	LZTFL1	NM_020347.3(LZTFL1): c.402_406delAAAGC (p.Pro136Thrfs)	deletion	Pathogenic	rs431825171	GRCh38	Chromosome 3, 45833100: 45833104
3	LZTFL1	NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro)	single nucleotide variant	Pathogenic	rs515726135	GRCh37	Chromosome 3, 45877145: 45877145
4	LZTFL1	NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro)	single nucleotide variant	Pathogenic	rs515726135	GRCh38	Chromosome 3, 45835653: 45835653
5	LZTFL1	NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter)	single nucleotide variant	Pathogenic	rs515726136	GRCh38	Chromosome 3, 45827459: 45827459
6	LZTFL1	NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter)	single nucleotide variant	Pathogenic	rs515726136	GRCh37	Chromosome 3, 45868951: 45868951
7	LZTFL1	NM_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter)	single nucleotide variant	Pathogenic	rs769327864	GRCh37	Chromosome 3, 45877083: 45877083
8	LZTFL1	NM_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter)	single nucleotide variant	Pathogenic	rs769327864	GRCh38	Chromosome 3, 45835591: 45835591
9	LZTFL1	NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 45837991: 45837991
10	LZTFL1	NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 45879483: 45879483

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Expression for Bardet-Biedl Syndrome 17

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 17.

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Pathways for Bardet-Biedl Syndrome 17

Pathways related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.34	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
2	Wnt / Hedgehog / Notch ⁴	11.88	GLI2 PROM1 PTCH1 SHH
3	Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling ⁶⁵ Show member pathways Basal cell carcinoma ³⁷	11.79	GLI2 PTCH1 SHH
4	Hedgehog Pathway ⁷² Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁷ Hedgehog Signaling Pathway ¹	11.69	GLI2 PTCH1 SHH
5	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.31	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
6	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.02	GLI2 PTCH1 SHH
7	Signaling events mediated by the Hedgehog family ¹ Show member pathways HHAT G278V abrogates palmitoylation of Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	10.85	GLI2 PTCH1 SHH
8	Glypican 3 network ¹	10.27	PTCH1 SHH

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GO Terms for Bardet-Biedl Syndrome 17

Cellular components related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.96	BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
2	microtubule organizing center	GO:0005815	9.91	BBS1 BBS2 BBS4 BBS7 BBS9
3	ciliary basal body	GO:0036064	9.77	BBS1 BBS2 BBS4 BBS7 PKD2
4	photoreceptor outer segment	GO:0001750	9.73	BBS4 BBS7 PROM1 RHO
5	motile cilium	GO:0031514	9.72	BBS2 BBS4 GLI2 PKD1 PKD2
6	axoneme	GO:0005930	9.7	BBS1 BBS7 GLI2
7	cilium	GO:0005929	9.65	BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
8	non-motile cilium	GO:0097730	9.63	BBS4 DRD1 PKD2
9	Golgi-associated vesicle membrane	GO:0030660	9.56	PKD1 RHO
10	pericentriolar material	GO:0000242	9.55	BBS4 BBS9
11	BBSome	GO:0034464	9.55	BBS1 BBS2 BBS4 BBS7 BBS9
12	photoreceptor outer segment membrane	GO:0042622	9.54	PROM1 RHO
13	polycystin complex	GO:0002133	9.48	PKD1 PKD2
14	ciliary membrane	GO:0060170	9.32	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
15	membrane	GO:0016020	10.37	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
16	plasma membrane	GO:0005886	10.25	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
17	cytoskeleton	GO:0005856	10.04	BBS1 BBS2 BBS4 BBS7 BBS9 STXBP1

Biological processes related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

(show top 50) (show all 58)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.95	BBS7 GLI2 PKD1 PKD2 SHH
2	cilium assembly	GO:0060271	9.91	BBS1 BBS2 BBS4 BBS7 BBS9
3	protein localization	GO:0008104	9.87	BBS2 BBS4 BBS7
4	kidney development	GO:0001822	9.87	GLI2 PKD1 PKD2 SHH
5	determination of left/right symmetry	GO:0007368	9.86	BBS7 PKD2 SHH
6	hippocampus development	GO:0021766	9.85	BBS2 BBS4 DRD1
7	pattern specification process	GO:0007389	9.83	GLI2 PTCH1 SHH
8	neural tube development	GO:0021915	9.81	GLI2 PKD1 PKD2
9	branching involved in ureteric bud morphogenesis	GO:0001658	9.81	PKD2 PTCH1 SHH
10	cell projection organization	GO:0030030	9.8	BBS1 BBS2 BBS4 BBS7 BBS9
11	dorsal/ventral pattern formation	GO:0009953	9.78	GLI2 PTCH1 SHH
12	fat cell differentiation	GO:0045444	9.78	BBS2 BBS4 BBS7 BBS9
13	smoothened signaling pathway	GO:0007224	9.76	BBS7 GLI2 PTCH1 SHH
14	branching morphogenesis of an epithelial tube	GO:0048754	9.75	GLI2 PKD1 SHH
15	protein localization to cilium	GO:0061512	9.73	BBS1 BBS4 BBS9
16	embryonic placenta development	GO:0001892	9.72	PKD1 PKD2
17	anatomical structure formation involved in morphogenesis	GO:0048646	9.72	GLI2 SHH
18	regulation of smoothened signaling pathway	GO:0008589	9.72	GLI2 PTCH1
19	hindbrain development	GO:0030902	9.72	GLI2 SHH
20	brain morphogenesis	GO:0048854	9.72	BBS2 BBS4
21	vasodilation	GO:0042311	9.71	BBS2 DRD1
22	osteoblast development	GO:0002076	9.71	GLI2 SHH
23	long term synaptic depression	GO:0060292	9.71	DRD1 STXBP1
24	protein localization to organelle	GO:0033365	9.71	BBS2 BBS4
25	detection of mechanical stimulus	GO:0050982	9.71	PKD1 PKD2
26	melanosome transport	GO:0032402	9.71	BBS2 BBS4 BBS7
27	somite development	GO:0061053	9.7	PTCH1 SHH
28	digestive tract morphogenesis	GO:0048546	9.7	BBS7 SHH
29	placenta blood vessel development	GO:0060674	9.7	PKD1 PKD2
30	negative regulation of multicellular organism growth	GO:0040015	9.7	BBS2 PTCH1
31	spinal cord motor neuron differentiation	GO:0021522	9.7	GLI2 PTCH1 SHH
32	cytoplasmic sequestering of transcription factor	GO:0042994	9.69	PKD1 PKD2
33	response to leptin	GO:0044321	9.69	BBS2 BBS4
34	positive regulation of T cell differentiation in thymus	GO:0033089	9.68	GLI2 SHH
35	leptin-mediated signaling pathway	GO:0033210	9.68	BBS2 BBS4
36	mesonephric tubule development	GO:0072164	9.67	PKD1 PKD2
37	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	GO:0060831	9.67	GLI2 PTCH1
38	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	GO:0031659	9.67	PKD1 PKD2
39	prostate gland development	GO:0030850	9.67	GLI2 PTCH1 SHH
40	heart looping	GO:0001947	9.67	BBS4 BBS7 PKD2 SHH
41	lung epithelium development	GO:0060428	9.66	PKD1 SHH
42	mammary gland duct morphogenesis	GO:0060603	9.66	GLI2 PTCH1
43	mesonephric duct development	GO:0072177	9.65	PKD1 PKD2
44	spinal cord dorsal/ventral patterning	GO:0021513	9.65	GLI2 SHH
45	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.64	BBS2 BBS4
46	hindgut morphogenesis	GO:0007442	9.63	GLI2 SHH
47	visual perception	GO:0007601	9.63	BBS1 BBS2 BBS4 BBS7 BBS9 RHO
48	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.62	BBS2 BBS4
49	metanephric ascending thin limb development	GO:0072218	9.62	PKD1 PKD2
50	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	GO:0021938	9.61	GLI2 SHH

Molecular functions related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actinin binding	GO:0042805	9.32	PKD2 PROM1
2	smoothened binding	GO:0005119	9.16	BBS1 PTCH1
3	patched binding	GO:0005113	9.13	BBS1 PTCH1 SHH
4	RNA polymerase II repressing transcription factor binding	GO:0001103	8.92	BBS1 BBS2 BBS4 BBS7
5	protein binding	GO:0005515	10.16	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1

Sources

Sources for Bardet-Biedl Syndrome 17

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia