NPHP1 deletion syndrome

No Pathway Network information available for NPHP1 deletion syndrome

Pathways in the NPHP1 deletion syndrome SuperPath

#	Name	Source	Genes
1	NPHP1 deletion syndrome	WikiPathways	BCAR1 FLNA FLNB FLNC INVS MAPK1 MAPK3 NPHP1 NPHP4 PTK2B RPGRIP1L (see all 11) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
2	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
3	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
4	NPHP1	Nephrocystin 1	Protein Coding	1
5	INVS	Inversin	Protein Coding	1
6	NPHP4	Nephrocystin 4	Protein Coding	1
7	RPGRIP1L	RPGRIP1 Like	Protein Coding	1
8	FLNC	Filamin C	Protein Coding	1
9	FLNB	Filamin B	Protein Coding	1
10	FLNA	Filamin A	Protein Coding	1
11	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1

Disorders associated with NPHP1 deletion syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Senior-loken syndrome 1	Enrichment	INVS, NPHP1, NPHP4	6.95
2	Nephronophthisis	Enrichment	INVS, NPHP1, NPHP4	5.67
3	Joubert syndrome 4	Enrichment	NPHP1, RPGRIP1L	5.45
4	Bardet-biedl syndrome	Enrichment	NPHP1, NPHP4, RPGRIP1L	5.35
5	Joubert syndrome 1	Enrichment	NPHP1, NPHP4, RPGRIP1L	5.12
6	Patent foramen ovale	Enrichment	FLNA, FLNC	4.04
7	Cakut	Enrichment	NPHP1, NPHP4	3.48
8	Boomerang dysplasia	Enrichment	FLNB	3.09
9	Otopalatodigital syndrome, type i	Enrichment	FLNA	3.09
10	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	3.09
11	Joubert syndrome 7	Enrichment	RPGRIP1L	3.09
12	Atelosteogenesis, type iii	Enrichment	FLNB	3.09
13	Atelosteogenesis, type i	Enrichment	FLNB	3.09
14	Noonan syndrome 13	Enrichment	MAPK1	3.09
15	Terminal osseous dysplasia	Enrichment	FLNA	3.09
16	Fg syndrome 2	Enrichment	FLNA	3.09
17	Coach syndrome 3	Enrichment	RPGRIP1L	3.09
18	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	3.09
19	Senior-loken syndrome 4	Enrichment	NPHP4	3.09
20	Meckel syndrome, type 5	Enrichment	RPGRIP1L	3.09
21	X-linked ehlers-danlos syndrome	Enrichment	FLNA	3.09
22	Flnb-related disorders	Enrichment	FLNB	3.09
23	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	3.09
24	Nephronophthisis 1	Enrichment	NPHP1	2.79
25	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	2.79
26	Otopalatodigital syndrome, type ii	Enrichment	FLNA	2.79
27	Melnick-needles syndrome	Enrichment	FLNA	2.79
28	Frontometaphyseal dysplasia 1	Enrichment	FLNA	2.79
29	Nephronophthisis 4	Enrichment	NPHP4	2.79
30	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	2.79
31	Cardiovascular system disease	Enrichment	FLNC	2.79
32	Prune belly syndrome	Enrichment	FLNA	2.61
33	Larsen syndrome	Enrichment	FLNB	2.61
34	Arterial tortuosity syndrome	Enrichment	FLNA	2.61
35	Periventricular nodular heterotopia 1	Enrichment	FLNA	2.61
36	Myopathy, myofibrillar, 5	Enrichment	FLNC	2.61
37	Nephronophthisis 2	Enrichment	INVS	2.61
38	Spondylocarpotarsal synostosis syndrome	Enrichment	FLNB	2.61
39	Congenital short bowel syndrome	Enrichment	FLNA	2.61
40	Myopathy, distal, 4	Enrichment	FLNC	2.61
41	Frontometaphyseal dysplasia	Enrichment	FLNA	2.61
42	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.49
43	Cardiomyopathy, familial hypertrophic, 26	Enrichment	FLNC	2.49
44	Hemifacial hyperplasia	Enrichment	FLNC	2.39
45	Coach syndrome 1	Enrichment	RPGRIP1L	2.39
46	Heart conduction disease	Enrichment	FLNC	2.39
47	Patent ductus arteriosus	Enrichment	FLNA	2.31
48	Inherited arrhythmogenic cardiomyopathy	Enrichment	FLNC	2.31
49	Infertility	Enrichment	NPHP4	2.31
50	Myofibrillar myopathy	Enrichment	FLNC	2.25
51	Familial isolated restrictive cardiomyopathy	Enrichment	FLNC	2.25
52	Fanconi anemia, complementation group c	Enrichment	FLNA	2.19
53	Infantile nephronophthisis	Enrichment	INVS	2.19
54	Nemaline myopathy	Enrichment	FLNC	2.09
55	Specific learning disability	Enrichment	MAPK1	2.05
56	Ciliopathy	Enrichment	RPGRIP1L	2.05
57	Cardiac conduction defect	Enrichment	FLNC	2.01
58	Restrictive cardiomyopathy	Enrichment	FLNC	2.01
59	Periventricular nodular heterotopia	Enrichment	FLNA	1.95
60	Kidney disease	Enrichment	NPHP4	1.92
61	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	FLNC	1.89
62	Cleft palate, isolated	Enrichment	FLNA	1.86
63	Heart, malformation of	Enrichment	MAPK1	1.84
64	Cardiomyopathy, dilated, 1a	Enrichment	FLNC	1.77
65	Cardiomyopathy, familial hypertrophic, 1	Enrichment	FLNC	1.71
66	Tetralogy of fallot	Enrichment	FLNC	1.68
67	Hereditary retinal dystrophy	Enrichment	NPHP1, NPHP4	1.66
68	Fundus dystrophy	Enrichment	NPHP1, NPHP4	1.66
69	Meckel syndrome, type 1	Enrichment	RPGRIP1L	1.63
70	Connective tissue disease	Enrichment	FLNB	1.59
71	Familial hypertrophic cardiomyopathy	Enrichment	FLNC	1.58
72	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	FLNA	1.45
73	Spastic ataxia	Enrichment	FLNC	1.38
74	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1	1.36
75	Dilated cardiomyopathy	Enrichment	FLNC	1.20
76	Leber plus disease	Enrichment	RPGRIP1L	1.13
77	Microcephaly	Enrichment	MAPK1	1.02
78	Retinitis pigmentosa	Enrichment	NPHP4	0.80

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

NPHP1 deletion syndrome

Pathway Network for NPHP1 deletion syndrome

Member Pathways for NPHP1 deletion syndrome

Pathways in the NPHP1 deletion syndrome SuperPath

Associated Genes for NPHP1 deletion syndrome

Associated Disorders for NPHP1 deletion syndrome

Disorders associated with NPHP1 deletion syndrome SuperPath

STRING Interaction Network for NPHP1 deletion syndrome

Sources for NPHP1 deletion syndrome