Bardet-Biedl syndrome

No Pathway Network information available for Bardet-Biedl syndrome

Pathways in the Bardet-Biedl syndrome SuperPath

#	Name	Source	Genes
1	Bardet-Biedl syndrome	WikiPathways	ARL13B ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMAL1 CEP104 CEP164 CEP290 CEP41 CFAP410 CFAP418 CILK1 CLUAP1 CNGA1 CNGB1 CRX DCDC2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFHC1 EFHC2 EVC EVC2 FLCN FUZ GLI3 GPR161 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 INPP5E INVS IQCB1 KIF7 LCA5 LZTFL1 MAK MKKS MKS1 NEK1 NEK8 NPHP3 OCRL PCARE PDE6D PKD1 PKD1L1 PKD2 PKHD1 PTCH1 RAB23 SCLT1 SDCCAG8 SMO SUFU TMEM107 TMEM216 TMEM67 TRAF3IP1 TRIM32 TTC21B TTC8 USP9X WDPCP WDR19 WDR35 ZIC2 (see all 85) (see less)
2	Genes related to primary cilium development (based on CRISPR)	WikiPathways	ARL3 ARMC9 BBS10 BBS12 BBS7 BBS9 CC2D2A CDK20 CEP104 CEP19 CEP83 CILK1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLL1 DYNLT1 DYNLT2B EFCAB7 EVC EVC2 FBF1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT56 IFT57 IFT70B IFT74 IFT81 IFT88 INPP5E IQCE KIFAP3 LZTFL1 MKKS MKS1 OFD1 RAB23 SCLT1 TCTN1 TMEM67 TRAF3IP1 TRAPPC11 TTC8 TULP3 WDR19 WDR35 (see all 52) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	IFT140	Intraflagellar Transport 140	Protein Coding	2
2	TMEM67	Transmembrane Protein 67	Protein Coding	2
3	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	2
4	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	2
5	IFT74	Intraflagellar Transport 74	Protein Coding	2
6	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	2
7	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	2
8	WDR19	WD Repeat Domain 19	Protein Coding	2
9	WDR35	WD Repeat Domain 35	Protein Coding	2
10	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	2
11	IFT122	Intraflagellar Transport 122	Protein Coding	2
12	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	2
13	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	2
14	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	2
15	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	2
16	RAB23	RAB23, Member RAS Oncogene Family	Protein Coding	2
17	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	2
18	IFT52	Intraflagellar Transport 52	Protein Coding	2
19	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	2
20	IFT172	Intraflagellar Transport 172	Protein Coding	2
21	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	2
22	CILK1	Ciliogenesis Associated Kinase 1	Protein Coding	2
23	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	2
24	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	2
25	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	2
26	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	2
27	IFT43	Intraflagellar Transport 43	Protein Coding	2
28	IFT27	Intraflagellar Transport 27	Protein Coding	2
29	CEP104	Centrosomal Protein 104	Protein Coding	2
30	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	2
31	IFT57	Intraflagellar Transport 57	Protein Coding	2
32	ARL3	ARF Like GTPase 3	Protein Coding	2
33	IFT81	Intraflagellar Transport 81	Protein Coding	2
34	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	2
35	IQCB1	IQ Motif Containing B1	Protein Coding	1
36	CEP41	Centrosomal Protein 41	Protein Coding	1
37	BBIP1	BBSome Interacting Protein 1	Protein Coding	1
38	ARL6	ARF Like GTPase 6	Protein Coding	1
39	USP9X	Ubiquitin Specific Peptidase 9 X-Linked	Protein Coding	1
40	FUZ	Fuzzy Planar Cell Polarity Protein	Protein Coding	1
41	CEP290	Centrosomal Protein 290	Protein Coding	1
42	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	1
43	CFAP410	Cilia And Flagella Associated Protein 410	Protein Coding	1
44	ZIC2	Zic Family Zinc Finger 2	Protein Coding	1
45	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	1
46	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1
47	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	1
48	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	1
49	IFT80	Intraflagellar Transport 80	Protein Coding	1
50	PTCH1	Patched 1	Protein Coding	1
51	PKHD1	PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin	Protein Coding	1
52	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	1
53	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	1
54	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1
55	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1
56	TMEM216	Transmembrane Protein 216	Protein Coding	1
57	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	1
58	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	1
59	NEK1	NIMA Related Kinase 1	Protein Coding	1
60	MAK	Male Germ Cell Associated Kinase	Protein Coding	1
61	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	1
62	PCARE	Photoreceptor Cilium Actin Regulator	Protein Coding	1
63	KIF7	Kinesin Family Member 7	Protein Coding	1
64	NEK8	NIMA Related Kinase 8	Protein Coding	1
65	GLI3	GLI Family Zinc Finger 3	Protein Coding	1
66	INVS	Inversin	Protein Coding	1
67	NPHP3	Nephrocystin 3	Protein Coding	1
68	GPR161	G Protein-Coupled Receptor 161	Protein Coding	1
69	TRIM32	Tripartite Motif Containing 32	Protein Coding	1
70	CEP164	Centrosomal Protein 164	Protein Coding	1
71	FLCN	Folliculin	Protein Coding	1
72	ARL13B	ARF Like GTPase 13B	Protein Coding	1
73	PKD1L1	Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting	Protein Coding	1
74	LCA5	Lebercilin LCA5	Protein Coding	1
75	CFAP418	Cilia And Flagella Associated Protein 418	Protein Coding	1
76	CRX	Cone-Rod Homeobox	Protein Coding	1
77	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	1
78	CNGA1	Cyclic Nucleotide Gated Channel Subunit Alpha 1	Protein Coding	1
79	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	1
80	EFHC1	EF-Hand Domain Containing 1	Protein Coding	1
81	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	1
82	TMEM107	Transmembrane Protein 107	Protein Coding	1
83	EFHC2	EF-Hand Domain Containing 2	Protein Coding	1
84	PDE6D	Phosphodiesterase 6D	Protein Coding	1
85	CLUAP1	Clusterin Associated Protein 1	Protein Coding	1
86	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	1
87	CEP19	Centrosomal Protein 19	Protein Coding	1
88	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	1
89	IFT88	Intraflagellar Transport 88	Protein Coding	1
90	TCTN1	Tectonic Family Member 1	Protein Coding	1
91	TULP3	TUB Like Protein 3	Protein Coding	1
92	TRAPPC11	Trafficking Protein Particle Complex Subunit 11	Protein Coding	1
93	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	1
94	CEP83	Centrosomal Protein 83	Protein Coding	1
95	CDK20	Cyclin Dependent Kinase 20	Protein Coding	1
96	IFT70B	Intraflagellar Transport 70B	Protein Coding	1
97	FBF1	Fas Binding Factor 1	Protein Coding	1
98	EFCAB7	EF-Hand Calcium Binding Domain 7	Protein Coding	1
99	ARMC9	Armadillo Repeat Containing 9	Protein Coding	1
100	IFT56	Intraflagellar Transport 56	Protein Coding	1
101	DYNLT1	Dynein Light Chain Tctex-Type 1	Protein Coding	1
102	IQCE	IQ Motif Containing E	Protein Coding	1
103	KIFAP3	Kinesin Associated Protein 3	Protein Coding	1

Disorders associated with Bardet-Biedl syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Asphyxiating thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, EVC2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	11.42
2	Retinitis pigmentosa	Enrichment	ARL3, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS7, BBS9, CEP290, CFAP410, CFAP418, CNGA1, CNGB1, CRX, IFT122, IFT140, IFT172, IFT43, IFT81, INPP5E, IQCB1, LCA5, MAK, MKS1, PCARE, TMEM216, TTC8	10.92
3	Jeune thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, EVC2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	10.92
4	Isolated joubert syndrome	Enrichment	ARL3, ARMC9, CEP104, IFT74, INPP5E, MKS1, OFD1, TCTN1, TMEM67	10.86
5	Bardet-biedl syndrome	Enrichment	ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CFAP418, IFT172, IFT27, IFT74, IQCB1, LZTFL1, MKKS, MKS1, SCLT1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP	10.82
6	Joubert syndrome 1	Enrichment	ARMC9, CC2D2A, CEP104, IFT172, INPP5E, MKS1, OFD1, TCTN1, TMEM67	10.78
7	Polycystic kidney disease	Enrichment	CEP290, IFT140, MKKS, NPHP3, PKD1, PKD2, PKHD1	10.73
8	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, EVC2, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	10.71
9	Bardet-biedl syndrome 1	Enrichment	ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, KIF7, MKKS	10.70
10	Senior-loken syndrome 1	Enrichment	CEP164, CEP290, INVS, IQCB1, NPHP3, SDCCAG8, TRAF3IP1, TTC21B, WDR19	10.70
11	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	DYNC2H1, EVC, EVC2, FUZ, IFT172, IFT80, NEK1, TRAF3IP1, TTC21B	10.69
12	Hereditary retinal dystrophy	Enrichment	ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP290, CFAP410, CFAP418, CNGA1, CNGB1, CRX, DYNC2H1, IFT140, IFT172, IFT81, INPP5E, IQCB1, LCA5, MAK, MKKS, PCARE, SDCCAG8, TRIM32, TTC21B, TTC8, WDR19	10.58
13	Fundus dystrophy	Enrichment	ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP290, CFAP410, CFAP418, CNGA1, CNGB1, CRX, DYNC2H1, IFT140, IFT172, IFT81, INPP5E, IQCB1, LCA5, MAK, MKKS, PCARE, SDCCAG8, TRIM32, TTC21B, TTC8, WDR19	10.58
14	Short-rib thoracic dysplasia 12	Enrichment	DYNC2H1, EVC2, IFT122, IFT80, NEK1, TTC21B, WDR19	10.56
15	Short rib-polydactyly syndrome	Enrichment	DYNC2H1, IFT43, IFT52, IFT81, NEK1, WDR35	10.53
16	Cranioectodermal dysplasia	Enrichment	CILK1, IFT122, IFT140, IFT43, IFT52, WDR19, WDR35	10.50
17	Nephronophthisis	Enrichment	CEP290, IFT140, INVS, IQCB1, MKKS, NPHP3, TTC21B, WDR19	10.40
18	Cranioectodermal dysplasia 1	Enrichment	CILK1, IFT122, IFT140, WDR19, WDR35	10.34
19	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, IFT80, WDR35	10.33
20	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	BBS10, DYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B, NEK1	10.18
21	Leber plus disease	Enrichment	BBS1, CEP290, CFAP410, CLUAP1, CRX, IFT140, INPP5E, IQCB1, LCA5, WDR19	9.45
22	Coach syndrome 1	Enrichment	CC2D2A, INPP5E, OFD1, TMEM67	9.00
23	Meckel syndrome, type 1	Enrichment	CEP290, EVC2, MKS1, TMEM107, TMEM216, TMEM67	7.67
24	Autosomal dominant polycystic kidney disease	Enrichment	IFT140, NEK8, PKD1, PKD2, PKHD1	7.61
25	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	DYNC2H1, PKD1, PKD2, PKHD1	7.01
26	Infantile nephronophthisis	Enrichment	INVS, NEK8, NPHP3, TTC21B	7.01
27	Cystic kidney disease	Enrichment	IFT140, PKD1, PKHD1, TMEM67	6.75
28	Cone-rod dystrophy 2	Enrichment	CEP290, CFAP410, CFAP418, CNGA1, CRX, IFT81, PCARE	6.68
29	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT140, IFT172, WDR19	6.28
30	Joubert syndrome with ocular defect	Enrichment	CEP41, INPP5E, MKS1	5.63
31	Ellis-van creveld syndrome	Enrichment	DYNC2LI1, EVC, EVC2	5.36
32	Multicystic kidney dysplasia	Enrichment	MKKS, PKD1, PKD2	5.33
33	Multicystic dysplastic kidney	Enrichment	MKKS, PKD1, PKD2	5.33
34	Bardet-biedl syndrome 22	Enrichment	IFT172, IFT74	4.84
35	Joubert syndrome 10	Enrichment	CC2D2A, OFD1	4.84
36	Polydactyly, postaxial, type a1	Enrichment	BBS12, CC2D2A, IQCE	4.63
37	Orofaciodigital syndrome vi	Enrichment	KIF7, PDE6D, TMEM216	4.42
38	Pallister-hall-like syndrome	Enrichment	SCLT1, SMO	4.41
39	Senior-boichis syndrome	Enrichment	DCDC2, TMEM67	4.41
40	Medulloblastoma	Enrichment	GPR161, PTCH1, SUFU	4.08
41	Orofaciodigital syndrome iii	Enrichment	IFT140, OFD1	4.07
42	Oligohydramnios	Enrichment	CC2D2A, TMEM67	4.07
43	Acrocallosal syndrome	Enrichment	GLI3, KIF7	3.94
44	Nephronophthisis 2	Enrichment	INVS, TTC21B	3.94
45	Renal-hepatic-pancreatic dysplasia	Enrichment	NEK8, NPHP3	3.94
46	Microform holoprosencephaly	Enrichment	PTCH1, SUFU, ZIC2	3.90
47	Weyers acrofacial dysostosis	Enrichment	EVC, EVC2	3.67
48	Bardet-biedl syndrome 14	Enrichment	CEP290, TMEM67	3.64
49	Orofaciodigital syndrome	Enrichment	TMEM107, WDPCP	3.64
50	Polycystic liver disease 1 with or without kidney cysts	Enrichment	PKD1, PKD2	3.42
51	Polycystic kidney disease 3 with or without polycystic liver disease	Enrichment	PKD1, PKHD1	3.42
52	Polycystic liver disease 1	Enrichment	PKD1, PKD2	3.42
53	Cone dystrophy	Enrichment	BBS5, CFAP410, WDR19	3.36
54	Polydactyly	Enrichment	CC2D2A, MKS1	3.29
55	Congenital nervous system abnormality	Enrichment	BBS12, CEP290, TMEM216, TMEM67, ZIC2	3.28
56	Nervous system disease	Enrichment	BBS12, CEP290, TMEM216, TMEM67, ZIC2	3.28
57	Basal cell nevus syndrome 1	Enrichment	PTCH1, SUFU	3.24
58	Renal dysplasia, cystic	Enrichment	CEP290, PKD1	3.24
59	Primary bone dysplasia	Enrichment	DYNC2H1, INPP5E	3.20
60	Osteochondrodysplasia	Enrichment	DYNC2H1, INPP5E	3.11
61	Ciliopathy	Enrichment	CC2D2A, CEP83	3.11
62	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	PKD1, PKD2	3.10
63	Arima syndrome	Enrichment	CEP290, TMEM216	3.10
64	Polycystic kidney disease 1	Enrichment	PKD1, PKD2	3.10
65	Stargardt disease 1	Enrichment	CRX, LCA5, PCARE	3.07
66	Connective tissue disease	Enrichment	NEK1, TTC21B, WDR19	2.99
67	Leber congenital amaurosis 1	Enrichment	CRX, LCA5	2.97
68	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	CC2D2A, INPP5E	2.96
69	Clubfoot	Enrichment	CC2D2A, INPP5E	2.96
70	Cone-rod dystrophy 6	Enrichment	ARL3, MKKS	2.89
71	Epilepsy, myoclonic juvenile	Enrichment	CILK1, EFHC1	2.69
72	Meningioma	Enrichment	SMO, SUFU	2.61
73	Chronic kidney disease	Enrichment	MKS1, PKD2	2.54
74	Retinitis pigmentosa 23	Enrichment	OFD1	2.42
75	Simpson-golabi-behmel syndrome, type 2	Enrichment	OFD1	2.42
76	Mckusick-kaufman syndrome	Enrichment	MKKS	2.42
77	Meckel syndrome, type 3	Enrichment	TMEM67	2.42
78	Bardet-biedl syndrome 12	Enrichment	BBS12	2.42
79	Bardet-biedl syndrome 17	Enrichment	LZTFL1	2.42
80	Senior-loken syndrome 8	Enrichment	WDR19	2.42
81	Joubert syndrome 6	Enrichment	TMEM67	2.42
82	Cranioectodermal dysplasia 4	Enrichment	WDR19	2.42
83	Rhyns syndrome	Enrichment	TMEM67	2.42
84	Retinitis pigmentosa 93	Enrichment	CC2D2A	2.42
85	Orofaciodigital syndrome xviii	Enrichment	IFT57	2.42
86	Joubert syndrome 35	Enrichment	ARL3	2.42
87	Short-rib thoracic dysplasia 18 with polydactyly	Enrichment	IFT43	2.42
88	Epilepsy, juvenile myoclonic 10	Enrichment	CILK1	2.42
89	Biliary, renal, neurologic, and skeletal syndrome	Enrichment	IFT56	2.42
90	Joubert syndrome 9	Enrichment	CC2D2A	2.42
91	Bardet-biedl syndrome 8	Enrichment	TTC8	2.42
92	Hepatorenocardiac degenerative fibrosis	Enrichment	TULP3	2.42
93	Coach syndrome 2	Enrichment	CC2D2A	2.42
94	Morbid obesity and spermatogenic failure	Enrichment	CEP19	2.42
95	Spermatogenic failure 72	Enrichment	WDR19	2.42
96	Bardet-biedl syndrome 6	Enrichment	MKKS	2.42
97	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome	Enrichment	INPP5E	2.42
98	Short-rib thoracic dysplasia 5 with or without polydactyly	Enrichment	WDR19	2.42
99	Endocrine-cerebroosteodysplasia	Enrichment	CILK1	2.42
100	Cranioectodermal dysplasia 3	Enrichment	IFT43	2.42
101	Nephronophthisis 13	Enrichment	WDR19	2.42
102	Bardet-biedl syndrome 7	Enrichment	BBS7	2.42
103	Nephronophthisis 11	Enrichment	TMEM67	2.42
104	Peritonitis	Enrichment	TMEM67	2.42
105	Cranioectodermal dysplasia 6	Enrichment	CILK1	2.42
106	Retinitis pigmentosa 51	Enrichment	TTC8	2.42
107	Joubert syndrome 13	Enrichment	TCTN1	2.42
108	Retinitis pigmentosa 81	Enrichment	IFT43	2.42
109	Short-rib thoracic dysplasia 8 with or without polydactyly	Enrichment	DYNC2I1	2.42
110	Senior-loken syndrome 9	Enrichment	TRAF3IP1	2.42
111	Short-rib thoracic dysplasia 16 with or without polydactyly	Enrichment	IFT52	2.42
112	Short-rib thoracic dysplasia 19 with or without polydactyly	Enrichment	IFT81	2.42
113	Joubert syndrome 40	Enrichment	IFT74	2.42
114	Retinitis pigmentosa 83	Enrichment	ARL3	2.42
115	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	Enrichment	TRAPPC11	2.42
116	Spermatogenic failure 58	Enrichment	IFT74	2.42
117	Nephronophthisis 18	Enrichment	CEP83	2.42
118	Lung disease	Enrichment	DYNC2H1	2.42
119	Pancreatitis	Enrichment	TMEM67	2.42
120	Syndromic inherited retinal disorder	Enrichment	MKKS	2.42
121	Kidney disease	Enrichment	CEP290, PKD1	2.41
122	Septopreoptic holoprosencephaly	Enrichment	PTCH1, ZIC2	2.41
123	Midline interhemispheric variant of holoprosencephaly	Enrichment	PTCH1, ZIC2	2.41
124	Creatine phosphokinase, elevated serum	Enrichment	PKD1, TRIM32	2.36
125	Hypertension	Enrichment	PKD1, PKD2	2.36
126	Isolated elevated serum creatine phosphokinase levels	Enrichment	PKD1, TRIM32	2.36
127	Lobar holoprosencephaly	Enrichment	PTCH1, ZIC2	2.36
128	Spastic ataxia	Enrichment	CEP290, MKS1, TMEM67	2.35
129	Polycystic liver disease	Enrichment	PKD2, PKHD1	2.30
130	Autosomal dominant polycystic liver disease	Enrichment	PKD2, PKHD1	2.30
131	Alobar holoprosencephaly	Enrichment	PTCH1, ZIC2	2.30
132	Semilobar holoprosencephaly	Enrichment	PTCH1, ZIC2	2.25
133	Pallister-hall syndrome	Enrichment	GLI3	2.20
134	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.20
135	Pneumothorax, primary spontaneous	Enrichment	FLCN	2.20
136	Congenital heart defects, hamartomas of tongue, and polysyndactyly	Enrichment	WDPCP	2.20
137	Bardet-biedl syndrome 3	Enrichment	ARL6	2.20
138	Intellectual developmental disorder, x-linked 99	Enrichment	USP9X	2.20
139	Curry-jones syndrome	Enrichment	SMO	2.20
140	Epilepsy, juvenile absence 1	Enrichment	EFHC1	2.20
141	Joubert syndrome 2	Enrichment	TMEM216	2.20
142	Schilbach-rott syndrome	Enrichment	PTCH1	2.20
143	Polydactyly, preaxial iv	Enrichment	GLI3	2.20
144	Senior-loken syndrome 5	Enrichment	IQCB1	2.20
145	Hydrolethalus syndrome 2	Enrichment	KIF7	2.20
146	Renal-hepatic-pancreatic dysplasia 2	Enrichment	NEK8	2.20
147	Leber congenital amaurosis 7	Enrichment	CRX	2.20
148	Retinitis pigmentosa 55	Enrichment	ARL6	2.20
149	Bardet-biedl syndrome 4	Enrichment	BBS4	2.20
150	Joubert syndrome 8	Enrichment	ARL13B	2.20
151	Nephronophthisis 9	Enrichment	NEK8	2.20
152	Retinitis pigmentosa 98	Enrichment	TMEM216	2.20
153	Joubert syndrome 22	Enrichment	PDE6D	2.20
154	Joubert syndrome 32	Enrichment	SUFU	2.20
155	Birt-hogg-dube syndrome	Enrichment	FLCN	2.20
156	Retinitis pigmentosa 62	Enrichment	MAK	2.20
157	Al-gazali-bakalinova syndrome	Enrichment	KIF7	2.20
158	Intellectual developmental disorder, x-linked 99, syndromic, female-restricted	Enrichment	USP9X	2.20
159	Lowe oculocerebrorenal syndrome	Enrichment	OCRL	2.20
160	Bardet-biedl syndrome 15	Enrichment	WDPCP	2.20
161	Meckel syndrome, type 2	Enrichment	TMEM216	2.20
162	Joubert syndrome 15	Enrichment	CEP41	2.20
163	Retinitis pigmentosa 54	Enrichment	PCARE	2.20
164	Bardet-biedl syndrome 18	Enrichment	BBIP1	2.20
165	Nephronophthisis 15	Enrichment	CEP164	2.20
166	Retinitis pigmentosa 45	Enrichment	CNGB1	2.20
167	Retinitis pigmentosa 74	Enrichment	BBS2	2.20
168	Amyotrophic lateral sclerosis 24	Enrichment	NEK1	2.20
169	Polycystic kidney disease 8	Enrichment	NEK8	2.20
170	Juvenile absence epilepsy	Enrichment	EFHC1	2.20
171	Multiple epiphyseal dysplasia, al-gazali type	Enrichment	KIF7	2.20
172	Bardet-biedl syndrome 2	Enrichment	BBS2	2.20
173	Non-syndromic non-specific multisutural craniosynostosis	Enrichment	FUZ	2.20
174	Female-restricted syndromic x-linked intellectual disability 99	Enrichment	USP9X	2.20
175	Turner syndrome	Enrichment	PTCH1	2.20
176	Renovascular hypertension	Enrichment	PKD1	2.20
177	Familial spontaneous pneumothorax	Enrichment	FLCN	2.20
178	Monosomy 9q22.3	Enrichment	PTCH1	2.20
179	Spondyloepiphyseal dysplasia tarda, x-linked	Enrichment	OFD1	2.12
180	Orofaciodigital syndrome i	Enrichment	OFD1	2.12
181	Nephronophthisis 4	Enrichment	BBS9	2.12
182	Bardet-biedl syndrome 10	Enrichment	BBS10	2.12
183	Short-rib thoracic dysplasia 17 with or without polydactyly	Enrichment	DYNLT2B	2.12
184	Leber congenital amaurosis 6	Enrichment	MKS1	2.12
185	Cranioectodermal dysplasia 2	Enrichment	WDR35	2.12
186	Carpenter syndrome 1	Enrichment	RAB23	2.12
187	Polycystic kidney disease 9	Enrichment	IFT140	2.12
188	Joubert syndrome 30	Enrichment	ARMC9	2.12
189	Sitosterolemia 2	Enrichment	DYNC2LI1	2.12
190	Cranioectodermal dysplasia 5	Enrichment	IFT140	2.12
191	Spondyloepiphyseal dysplasia tarda	Enrichment	OFD1	2.12
192	Bardet-biedl syndrome 13	Enrichment	MKS1	2.12
193	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	DYNC2LI1	2.12
194	Bardet-biedl syndrome 9	Enrichment	BBS9	2.12
195	Muscular dystrophy, limb-girdle, autosomal recessive 18	Enrichment	TRAPPC11	2.12
196	Short-rib thoracic dysplasia 7 with or without polydactyly	Enrichment	WDR35	2.12
197	Joubert syndrome 28	Enrichment	MKS1	2.12
198	Intellectual developmental disorder, autosomal recessive 77	Enrichment	CEP104	2.12
199	Short femur	Enrichment	INPP5E	2.12
200	Cerebellar malformation	Enrichment	TMEM67	2.12
201	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Enrichment	IFT140	2.12
202	Inherited cancer-predisposing syndrome	Enrichment	FLCN, PKD1, PTCH1, SUFU	2.02
203	Simpson-golabi-behmel syndrome, type 1	Enrichment	OFD1	1.94
204	Caroli disease, isolated	Enrichment	IFT56	1.94
205	Meckel syndrome, type 6	Enrichment	CC2D2A	1.94
206	Joubert syndrome 25	Enrichment	CEP104	1.94
207	Sitosterolemia 1	Enrichment	DYNC2LI1	1.94
208	Bardet-biedl syndrome 19	Enrichment	IFT27	1.94
209	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	DYNC2I2	1.94
210	Caroli disease	Enrichment	IFT56	1.94
211	Sitosterolemia	Enrichment	DYNC2LI1	1.94
212	Interstitial lung disease	Enrichment	INPP5E	1.94
213	Polydactyly, postaxial, type a7	Enrichment	IQCE	1.94
214	Retinitis pigmentosa 80	Enrichment	IFT140	1.94
215	Respiratory failure	Enrichment	INPP5E	1.94
216	Birt-hogg-dube syndrome 1	Enrichment	FLCN	1.90
217	Chylomicron retention disease	Enrichment	DCDC2	1.90
218	Orofaciodigital syndrome ii	Enrichment	NEK1	1.90
219	Muscular dystrophy, limb-girdle, autosomal recessive 8	Enrichment	TRIM32	1.90
220	Dent disease 2	Enrichment	OCRL	1.90
221	Short-rib thoracic dysplasia 2 with or without polydactyly	Enrichment	IFT80	1.90
222	Holoprosencephaly 5	Enrichment	ZIC2	1.90
223	Nephronophthisis 12	Enrichment	TTC21B	1.90
224	Deafness, autosomal recessive 66	Enrichment	DCDC2	1.90
225	Bardet-biedl syndrome 5	Enrichment	BBS5	1.90
226	Bardet-biedl syndrome 11	Enrichment	TRIM32	1.90
227	Heterotaxy, visceral, 8, autosomal	Enrichment	PKD1L1	1.90
228	Short-rib thoracic dysplasia 4 with or without polydactyly	Enrichment	TTC21B	1.90
229	Polycystic liver disease 2 with or without kidney cysts	Enrichment	LCA5	1.90
230	Spondylometaphyseal dysplasia, axial	Enrichment	CFAP410	1.90
231	Nephronophthisis 19	Enrichment	DCDC2	1.90
232	Orofaciodigital syndrome xvi	Enrichment	TMEM107	1.90
233	Developmental and epileptic encephalopathy 88	Enrichment	WDPCP	1.90
234	Retinitis pigmentosa 49	Enrichment	CNGA1	1.90
235	Retinal dystrophy with or without macular staphyloma	Enrichment	CFAP410	1.90
236	Leber congenital amaurosis 5	Enrichment	LCA5	1.90
237	Tibial hemimelia	Enrichment	GLI3	1.90
238	Autosomal recessive limb-girdle muscular dystrophy type 2h	Enrichment	TRIM32	1.90
239	Senior-loken syndrome 7	Enrichment	SDCCAG8	1.90
240	Synpolydactyly	Enrichment	GLI3	1.90
241	Congenital fibrosarcoma	Enrichment	SUFU	1.90
242	Bardet-biedl syndrome 16	Enrichment	SDCCAG8	1.90
243	Sclerosing cholangitis, neonatal	Enrichment	DCDC2	1.90
244	Polycystic kidney disease 3	Enrichment	PKD1	1.90
245	Basal cell nevus syndrome 2	Enrichment	SUFU	1.90
246	Postaxial polydactyly type b	Enrichment	GLI3	1.90
247	Joubert syndrome 29	Enrichment	TMEM107	1.90
248	Isolated neonatal sclerosing cholangitis	Enrichment	DCDC2	1.90
249	Hirschsprung disease 1	Enrichment	GLI3, SMO	1.85
250	Achalasia-addisonianism-alacrima syndrome	Enrichment	TRAPPC11	1.82
251	Astigmatism	Enrichment	SCLT1	1.82
252	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	1.82
253	Retinitis pigmentosa 71	Enrichment	IFT172	1.82
254	Bardet-biedl syndrome 20	Enrichment	IFT172	1.82
255	Syndactyly	Enrichment	IQCE	1.82
256	Newborn respiratory distress syndrome	Enrichment	DYNC2H1	1.82
257	Anencephaly	Enrichment	CC2D2A	1.82
258	Homocystinuria due to cystathionine beta-synthase deficiency	Enrichment	PKHD1	1.73
259	Aarskog-scott syndrome	Enrichment	GLI3	1.73
260	Dyslexia 2	Enrichment	DCDC2	1.73
261	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	PKD1	1.73
262	Meckel syndrome, type 7	Enrichment	NPHP3	1.73
263	Senior-loken syndrome 6	Enrichment	CEP290	1.73
264	Nephronophthisis 3	Enrichment	NPHP3	1.73
265	Joubert syndrome 5	Enrichment	CEP290	1.73
266	Holoprosencephaly 7	Enrichment	PTCH1	1.73
267	Tuberous sclerosis 2	Enrichment	PKD1	1.73
268	Polycystic kidney disease 2 with or without polycystic liver disease	Enrichment	PKD2	1.73
269	Dent disease	Enrichment	OCRL	1.73
270	Umbilical hernia	Enrichment	GLI3	1.73
271	Polycystic kidney disease 4	Enrichment	PKHD1	1.73
272	Hydrolethalus syndrome	Enrichment	KIF7	1.73
273	Polycystic kidney disease 2	Enrichment	PKD2	1.73
274	Potocki-lupski syndrome	Enrichment	FLCN	1.73
275	Bardet-biedl syndrome 21	Enrichment	CFAP418	1.73
276	Chromophobe renal cell carcinoma	Enrichment	FLCN	1.73
277	End stage renal disease	Enrichment	PKD1	1.73
278	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.73
279	Cog7-congenital disorder of glycosylation	Enrichment	CEP290	1.73
280	Occipital encephalocele	Enrichment	CEP290	1.73
281	Hyperpigmentation of the skin	Enrichment	USP9X	1.73
282	Late-onset nephronophthisis	Enrichment	NPHP3	1.73
283	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	TRAPPC11	1.72
284	Macular degeneration	Enrichment	BBS10	1.72
285	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	IFT140	1.72
286	Farsightedness	Enrichment	SCLT1	1.72
287	Eye disease	Enrichment	ARL6, BBS9	1.69
288	Patent ductus arteriosus	Enrichment	INPP5E	1.64
289	Retinitis pigmentosa 91	Enrichment	CRX	1.60
290	Polydactyly, preaxial ii	Enrichment	PTCH1	1.60
291	Renal-hepatic-pancreatic dysplasia 1	Enrichment	NPHP3	1.60
292	Sacral defect with anterior meningocele	Enrichment	FUZ	1.60
293	Meckel syndrome, type 4	Enrichment	CEP290	1.60
294	Pregnancy loss, recurrent 3	Enrichment	PKHD1	1.60
295	Cone-rod dystrophy 16	Enrichment	CFAP418	1.60
296	Meckel syndrome 13	Enrichment	TMEM107	1.60
297	Tuberous sclerosis	Enrichment	PKD1	1.60
298	Pilocytic astrocytoma	Enrichment	FLCN	1.60
299	Oculomotor apraxia	Enrichment	SUFU	1.60
300	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	KIF7	1.60
301	Brachydactyly	Enrichment	IQCE	1.58
302	Retinal degeneration	Enrichment	IQCE	1.58
303	Spastic paraplegia 4, autosomal dominant	Enrichment	OFD1	1.52
304	Spermatogenic failure 5	Enrichment	IFT74	1.52
305	Pseudovaginal perineoscrotal hypospadias	Enrichment	BBIP1	1.51
306	Leber congenital amaurosis 10	Enrichment	CEP290	1.51
307	Holoprosencephaly	Enrichment	ZIC2	1.51
308	Night blindness	Enrichment	CEP290	1.51
309	Hemangioma	Enrichment	PKD1	1.51
310	Optic atrophy plus syndrome	Enrichment	BBS7, NPHP3	1.51
311	Limb-girdle muscular dystrophy	Enrichment	TRAPPC11	1.47
312	Holoprosencephaly 1	Enrichment	ZIC2	1.43
313	Basal cell carcinoma 1	Enrichment	PTCH1	1.43
314	Childhood absence epilepsy	Enrichment	EFHC1	1.43
315	Cat eye syndrome	Enrichment	TMEM67	1.42
316	Polymicrogyria	Enrichment	OFD1	1.42
317	Leukoencephalopathy, brain calcifications, and cysts	Enrichment	TMEM107	1.37
318	Motor neuron disease	Enrichment	NEK1	1.37
319	Congenital hydrocephalus	Enrichment	PTCH1	1.37
320	Overgrowth syndrome	Enrichment	PTCH1	1.37
321	Hereditary clear cell renal cell carcinoma	Enrichment	FLCN	1.37
322	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	TRAPPC11	1.35
323	Microphthalmia/coloboma 12	Enrichment	TMEM67	1.31
324	Immunodeficiency 47	Enrichment	CEP290	1.31
325	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CFAP410, NEK1	1.29
326	Osteoporosis	Enrichment	OFD1	1.28
327	Nephrotic syndrome, type 1	Enrichment	TTC21B	1.26
328	Coloboma of macula	Enrichment	TMEM67	1.25
329	Hydrocephalus	Enrichment	IFT56	1.25
330	Hydrocephalus, congenital, 1	Enrichment	OFD1	1.22
331	Cleft palate, isolated	Enrichment	INPP5E	1.20
332	Dandy-walker syndrome	Enrichment	ARMC9	1.20
333	Meningioma, familial	Enrichment	SUFU	1.18
334	Specific learning disability	Enrichment	BBIP1	1.18
335	Heart, malformation of	Enrichment	DYNC2H1	1.17
336	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	TRAPPC11	1.15
337	Diaphragmatic hernia, congenital	Enrichment	GLI3	1.11
338	Neural tube defects	Enrichment	FUZ	1.11
339	Attention deficit-hyperactivity disorder	Enrichment	CDK20	1.09
340	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	BBIP1	1.07
341	Pituitary stalk interruption syndrome	Enrichment	GPR161	1.07
342	Isolated macular dystrophy	Enrichment	MAK	1.07
343	Muscular dystrophy	Enrichment	TRAPPC11	1.05
344	Renal cell carcinoma, nonpapillary	Enrichment	FLCN	1.05
345	Rhabdomyosarcoma	Enrichment	PTCH1	1.02
346	Colorectal cancer	Enrichment	FLCN, PKHD1	0.99
347	Severe covid-19	Enrichment	CC2D2A	0.98
348	Macs syndrome	Enrichment	PTCH1	0.93
349	Craniosynostosis	Enrichment	GLI3	0.93
350	Focal segmental glomerulosclerosis	Enrichment	SDCCAG8	0.93
351	Dystonia	Enrichment	CEP104	0.90
352	Visceral heterotaxy	Enrichment	PKD1L1	0.89
353	Microphthalmia	Enrichment	PTCH1	0.89
354	Ovarian cancer	Enrichment	FLCN, PTCH1	0.88
355	Strabismus	Enrichment	KIF7	0.81
356	Visceral heterotaxy 5	Enrichment	PKD1L1	0.75
357	Usher syndrome	Enrichment	BBS1	0.73
358	Autosomal recessive non-syndromic intellectual disability	Enrichment	CEP104	0.70
359	Non-syndromic x-linked intellectual disability	Enrichment	USP9X	0.69
360	Epilepsy	Enrichment	TTC21B	0.65
361	Myopathy	Enrichment	TRIM32	0.65
362	Nonsyndromic hearing loss	Enrichment	DCDC2	0.63
363	Nephrotic syndrome	Enrichment	TTC21B	0.62
364	Primary ciliary dyskinesia	Enrichment	OFD1	0.60
365	Body mass index quantitative trait locus 11	Enrichment	BBIP1	0.57
366	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	0.53
367	Autism spectrum disorder	Enrichment	CEP104	0.46
368	Microcephaly	Enrichment	CC2D2A	0.42
369	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	DCDC2	0.37

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Bardet-Biedl syndrome

Pathway Network for Bardet-Biedl syndrome

Member Pathways for Bardet-Biedl syndrome

Pathways in the Bardet-Biedl syndrome SuperPath

Associated Genes for Bardet-Biedl syndrome

Associated Disorders for Bardet-Biedl syndrome

Disorders associated with Bardet-Biedl syndrome SuperPath

STRING Interaction Network for Bardet-Biedl syndrome

Sources for Bardet-Biedl syndrome