Search Results for JoubertS - 173 interactions found in 59 entries.

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Entry-ID

	Interactor1 (Subject)		Interaction type	Interactor2 (Object)	additional information

PubMed-ID

Diseases

7,012

68727	NPHP1	increases_activity of	cilium
70831	CEP290	is localized in	ciliary basal body
70836	ciliary basal body	increases_activity of	cilium
70837	MKS1	is localized in	ciliary basal body

27385962

Diabetes mellitus, type II
Insulin resistance
Bardet-Biedl syndrome
Ciliopathy

7,032

68930	NPHP1		affects_activity of	Joubert syndrome 4
68951	RPGRIP1L		affects_activity of	Joubert syndrome 7

Senior-Loken syndrome
Ciliopathy

7,065

69475	NPHP1	is_part_of	NPHP1-NPHP4-RPGRIP1L complex
69477	RPGRIP1L	is_part_of	NPHP1-NPHP4-RPGRIP1L complex
69478	NPHP1-NPHP4-RPGRIP1L complex	is localized in	ciliary transition zone
69498	MKS1	increases_activity of	cilium assembly

Nephronophthisis
Senior-Loken syndrome 3
Ciliopathy

7,068

69516

TCTN1

increases_activity of

cilium assembly

Nephronophthisis
Bardet-Biedl syndrome
Ciliopathy

7,069

69539	B9D2	is_part_of	B9 complex
69540	TCTN1	is_part_of	B9 complex
69541	TCTN2	is_part_of	B9 complex
69543	AHI1	is_part_of	B9 complex
69544	CC2D2A	is_part_of	B9 complex
69545	TMEM231	is_part_of	B9 complex
69559	B9 complex	affects_activity of	cilium assembly

Bardet-Biedl syndrome
Joubert syndrome
Meckel syndrome
Ciliopathy

7,070

69565	MKS1	is_part_of	Tectonic ciliopathy complex
69566	CEP290	is_part_of	Tectonic ciliopathy complex
69567	CC2D2A	is_part_of	Tectonic ciliopathy complex
69568	TCTN2	is_part_of	Tectonic ciliopathy complex
69569	B9D1	is_part_of	Tectonic ciliopathy complex
69571	TCTN1	is_part_of	Tectonic ciliopathy complex
69572	TCTN3	is_part_of	Tectonic ciliopathy complex
69574	TMEM216	is_part_of	Tectonic ciliopathy complex
69575	TMEM67	is_part_of	Tectonic ciliopathy complex
69576	Tectonic ciliopathy complex	affects_activity of	cilium assembly

Joubert syndrome
Meckel syndrome
Ciliopathy

7,081

69619	CEP290	affects_activity of	Joubert syndrome 5
69682	CC2D2A	interacts (colocalizes) with	CEP290
69684	TMEM67	affects_activity of	Joubert syndrome 6
69688	CC2D2A	affects_activity of	Joubert syndrome 9
69690	TMEM67	affects_activity of	cilium
69692	CC2D2A	is localized in	ciliary basal body

Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Ciliopathy

7,092

69793

ZNF423

interacts (colocalizes) with

CEP290

Senior-Loken syndrome 7
Nephronophthisis 14
Nephronophthisis 15
Ciliopathy

7,127

70217

CC2D2A

affects_quantity of

cilium

Joubert syndrome 9
Meckel syndrome, type 6
Ciliopathy

7,137

70278

RPGRIP1L

interacts (colocalizes) with

CEP290

at the basal body and centrosomes

Meckel syndrome, type 5
Joubert syndrome 7
Ciliopathy

7,138

70289

RPGRIP1L

is localized in

ciliary basal body

Meckel syndrome, type 5
Joubert syndrome 7
Ciliopathy

7,144

70333

AHI1

is localized in

ciliary basal body

Joubert syndrome 3
Ciliopathy

7,145

70334

ARL13B

affects_activity of

Joubert syndrome 8

Joubert syndrome 8
Ciliopathy

7,146

70335

ARL13B

is localized in

cilium

in neurons

Joubert syndrome 8
Ciliopathy

7,172

70632	KIF7		is localized in	ciliary tip
126693	KIF7		is localized in	cilium

Joubert syndrome
Ciliopathy
Short-rib thoracic dysplasia 3 with or without polydactyly
Acrocallosal syndrome

7,174

70421	OFD1		is_part_of	KIAA0753-FOR20-OFD1 complex
70424	KIAA0753-FOR20-OFD1 complex		increases_activity of	cilium assembly

Ciliopathy

7,193

70854	INPP5E	affects_activity of	Joubert syndrome 1
70855	TMEM216	affects_activity of	Joubert syndrome 2
70858	AHI1	affects_activity of	Joubert syndrome 3
70859	NPHP1	affects_activity of	Joubert syndrome 4
70862	CEP290	affects_activity of	Joubert syndrome 5
70867	TMEM67	affects_activity of	Joubert syndrome 6
70870	RPGRIP1L	affects_activity of	Joubert syndrome 7
70872	ARL13B	affects_activity of	Joubert syndrome 8
70873	CC2D2A	affects_activity of	Joubert syndrome 9
70875	OFD1	affects_activity of	Joubert syndrome 10
70879	KIF7	affects_activity of	Joubert syndrome 12
70881	TCTN1	affects_activity of	Joubert syndrome 13
70882	TMEM237	affects_activity of	Joubert syndrome 14
70883	CEP41	affects_activity of	Joubert syndrome 15
70884	TMEM138	affects_activity of	Joubert syndrome 16
70885	CPLANE1	affects_activity of	Joubert syndrome 17
70886	TCTN3	affects_activity of	Joubert syndrome 18
70887	ZNF423	affects_activity of	Joubert syndrome 19
70889	TMEM231	affects_activity of	Joubert syndrome 20
70890	TCTN2	affects_activity of	Joubert syndrome 24

Joubert syndrome
Ciliopathy

7,195

70898

INPP5E

is localized in

cilium

in embryonic fibroblasts

Joubert syndrome 1
Ciliopathy
Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome

7,197

70919	ARL13B		increases_transport of	INPP5E	into primary cilia
70923	PDE6D		interacts (colocalizes) with	INPP5E

Joubert syndrome
Ciliopathy

7,198

70906	PDE6D	affects_activity of	Joubert syndrome 22
70949	PDE6D	is localized in	ciliary basal body
70962	PDE6D	interacts (colocalizes) with	ARL3
70965	PDE6D	interacts (colocalizes) with	INPP5E

Joubert syndrome
Ciliopathy

7,210

71026

TMEM216

is localized in

cilium

Joubert syndrome 2
Meckel syndrome, type 2
Ciliopathy

7,215

71053	TMEM67	is localized in	cilium
71117	AHI1	is localized in	cilium
71118	TMEM67	interacts (colocalizes) with	AHI1

Joubert syndrome
Ciliopathy

7,223

71091	CSPP1		affects_activity of	Joubert syndrome 21
71142	CSPP1		affects_activity of	cilium

Joubert syndrome 21
Ciliopathy

10,094

105535

RPGRIP1L

increases_activity of

cilium assembly

24345806

Cardiovascular disease

11,035

112063

EXOC8

affects_activity of

cilium assembly

22700954

Neurological

11,432

114277

SUFU

is localized in

cilium

21317289

Cardiovascular disease

13,396

126190	ARL3	affects_activity of	Joubert syndrome 35
126192	ARL13B	affects_activity of	Joubert syndrome 8
126193	ARMC9	affects_activity of	Joubert syndrome 30
126195	B9D1	affects_activity of	Joubert syndrome 27
126198	B9D2	affects_activity of	Joubert syndrome 34
126199	CPLANE1	affects_activity of	Joubert syndrome 17
126201	CC2D2A	affects_activity of	Joubert syndrome 9
126204	CEP104	affects_activity of	Joubert syndrome 25
126205	CEP120	affects_activity of	Joubert syndrome 31
126207	CEP290	affects_activity of	Joubert syndrome 5
126212	CEP41	affects_activity of	Joubert syndrome 15
126214	CLUAP1	affects_activity of	Joubert syndrome
126215	CSPP1	affects_activity of	Joubert syndrome 21
126217	EXOC8	affects_activity of	Joubert syndrome
126221	INPP5E	affects_activity of	Joubert syndrome 1
126222	KIAA0556	affects_activity of	Joubert syndrome 26
126223	KIAA0586	affects_activity of	Joubert syndrome 23
126229	MKS1	affects_activity of	Joubert syndrome 28
126231	NPHP1	affects_activity of	Joubert syndrome 4
126236	OFD1	affects_activity of	Joubert syndrome 10
126238	PDE6D	affects_activity of	Joubert syndrome 22
126239	PIBF1	affects_activity of	Joubert syndrome 33
126240	RPGRIP1L	affects_activity of	Joubert syndrome 7
126242	SUFU	affects_activity of	Joubert syndrome 32
126243	TCTN1	affects_activity of	Joubert syndrome 13
126244	TCTN2	affects_activity of	Joubert syndrome 24
126245	TCTN3	affects_activity of	Joubert syndrome 18
126249	TMEM138	affects_activity of	Joubert syndrome 16
126255	TMEM216	affects_activity of	Joubert syndrome 2
126258	TMEM231	affects_activity of	Joubert syndrome 20
126260	TMEM237	affects_activity of	Joubert syndrome 14
126261	TMEM67	affects_activity of	Joubert syndrome 6

30915099

Ciliopathy
Neurodevelopmental disease

13,455

126813	CLUAP1		is localized in	cilium
126814	CLUAP1		increases_activity of	cilium assembly

23742838

Ciliopathy

13,456

126819	CEP120		affects_activity of	cilium assembly
126821	CEP120		interacts (colocalizes) with	KIAA0586

30988386

Ciliopathy

13,457

126823	ARMC9		affects_activity of	Joubert syndrome 30
126831	ARMC9		is localized in	ciliary basal body

28625504

Ciliopathy

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