MCID: NPH005
MIFTS: 54

Nephronophthisis

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephronophthisis

MalaCards integrated aliases for Nephronophthisis:

Name: Nephronophthisis 12 23 50 24 25 56 29 14 69
Medullary Cystic Disease 12 50 69
Autosomal Dominant Medullary Cystic Kidney Disease with or Without Hyperuricemia 50 56
Medullary Cystic Kidney 12 52
Nph 23 25
Medullary Cystic Kidney Disease 1 69
Medullary Cystic Kidney Disease 50
Mckd 50
Nphp 25

Characteristics:

Orphanet epidemiological data:

56
nephronophthisis
Inheritance: Autosomal recessive; Age of onset: All ages;
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12712
ICD10 33 Q61.5
NCIt 47 C123200
SNOMED-CT 64 204958008 204961009
UMLS via Orphanet 70 C0687120
ICD10 via Orphanet 34 Q61.5
UMLS 69 C0687120

Summaries for Nephronophthisis

NIH Rare Diseases : 50 medullary cystic kidney disease (mckd) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. end stage renal disease (esrd) eventually follows. there are 2 types of mckd, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. mckd 1 is caused by mutations in the mckd1 gene (which has not yet been identified) and mckd 2 is caused by mutations in the umod gene. the 2 types also differ by mckd 1 being associated with esrd at an average age of 62 years, while mckd 2 is associated with esrd around 32 years and is more likely to be associated with hyperuricemia and gout. treatment for mckd may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. last updated: 6/8/2011

MalaCards based summary : Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 4 and nephronophthisis 1, juvenile, and has symptoms including anemia, renal insufficiency and abnormality of retinal pigmentation. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).

Genetics Home Reference : 25 Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.

Wikipedia : 72 Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a... more...

GeneReviews: NBK368475

Related Diseases for Nephronophthisis

Diseases in the Nephronophthisis family:

Nephronophthisis 4 Nephronophthisis 1, Juvenile
Nephronophthisis 12 Nephronophthisis 3
Nephronophthisis 13 Nephronophthisis 19
Nephronophthisis 11 Nephronophthisis 16
Nephronophthisis 2, Infantile Nephronophthisis 15
Nephronophthisis 18 Nephronophthisis 20
Nephronophthisis 7 Nephronophthisis 14
Nephronophthisis 9 Nephronophthisis 8
Late-Onset Nephronophthisis

Diseases related to Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
id Related Disease Score Top Affiliating Genes
1 nephronophthisis 4 34.5 NPHP1 NPHP4
2 nephronophthisis 1, juvenile 34.5 INVS NPHP1 NPHP3 NPHP4
3 medullary cystic kidney disease 2 33.6 NPHP1 UMOD
4 senior-loken syndrome-1 32.4 CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
5 autosomal dominant medullary cystic kidney disease with hyperuricemia 12.5
6 nephronophthisis 11 12.2
7 nephronophthisis 13 12.2
8 nephronophthisis-like nephropathy 1 12.1
9 nephronophthisis 2, infantile 12.1
10 nephronophthisis 3 12.1
11 nephronophthisis 16 12.1
12 nephronophthisis 15 12.1
13 nephronophthisis 9 12.1
14 nephronophthisis 20 12.1
15 nephronophthisis 18 12.1
16 nephronophthisis 14 12.1
17 nephronophthisis 19 12.1
18 nephronophthisis 12 12.1
19 nephronophthisis 7 12.1
20 normal pressure hydrocephalus 11.8
21 nephronophthisis 8 11.7
22 nephronophthisis familial adult spastic quadriparesis 11.7
23 adult familial nephronophthisis-spastic quadriparesia syndrome 11.7
24 late-onset nephronophthisis 11.7
25 rhyns syndrome 11.4
26 senior-boichis syndrome 11.0
27 ocular motor apraxia 11.0
28 glomerulosclerosis, focal segmental, 2 10.9
29 abnormal number of coronary ostia 10.9 MAPKBP1 NPHP3 XPNPEP3
30 panic disorder 2 10.8 INVS NPHP1 NPHP3 NPHP4
31 senior-loken syndrome 9 10.8
32 senior-loken syndrome 5 10.8
33 cranioectodermal dysplasia 3 10.8
34 cranioectodermal dysplasia 4 10.8
35 crest syndrome 10.8 INVS NPHP1 NPHP3 NPHP4
36 jung wolff back stahl syndrome 10.8 NPHP1 RPGRIP1L
37 junctional epidermolysis bullosa inversa 10.8 CEP290 ZNF423
38 meckel syndrome 4 10.7 CEP290 IQCB1
39 abdominal wall defect 10.7 CEP290 IQCB1 NPHP3 NPHP4
40 x-linked sideroblastic anemia with ataxia 10.7 INVS NPHP1 NPHP3
41 liver lymphoma 10.7 TMEM67 WDR19
42 congenital heart defects, multiple types, 3 10.7 IQCB1 NPHP1 NPHP3 TMEM67
43 gallbladder disease 10.7 INVS IQCB1 NEK8 NPHP3
44 alsing syndrome 10.7
45 bardet-biedl syndrome 15 10.7 NPHP3 RPGRIP1L TMEM67
46 senior-loken syndrome 7 10.7
47 cranioectodermal dysplasia 2 10.7
48 joubert syndrome 5 10.7
49 joubert syndrome with oculorenal anomalies 10.7
50 senior-loken syndrome 6 10.7

Graphical network of the top 20 diseases related to Nephronophthisis:



Diseases related to Nephronophthisis

Symptoms & Phenotypes for Nephronophthisis

Human phenotypes related to Nephronophthisis:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
2 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
3 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703

MGI Mouse Phenotypes related to Nephronophthisis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 WDR19 ZNF423 CEP290 GLIS2 INPP5E INVS
2 growth/size/body region MP:0005378 10.11 ANKS6 CEP290 INPP5E INVS NEK8 NPHP3
3 craniofacial MP:0005382 10.03 CEP290 INPP5E NPHP3 RPGRIP1L TMEM67 TTC21B
4 mortality/aging MP:0010768 10.03 ANKS6 CEP164 CEP290 GLIS2 INPP5E INVS
5 embryo MP:0005380 9.95 INPP5E INVS NPHP3 RPGRIP1L TMEM67 TTC21B
6 nervous system MP:0003631 9.81 CEP290 INPP5E NPHP3 NPHP4 RPGRIP1L TMEM67
7 limbs/digits/tail MP:0005371 9.8 MAPKBP1 RPGRIP1L TMEM67 TTC21B WDR19 INPP5E
8 renal/urinary system MP:0005367 9.73 GLIS2 INPP5E INVS NEK8 NPHP1 NPHP3
9 skeleton MP:0005390 9.28 CEP290 INPP5E MAPKBP1 NPHP3 RPGRIP1L TMEM67

Drugs & Therapeutics for Nephronophthisis

Drugs for Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957
2 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Nephronophthisis

Genetic Tests for Nephronophthisis

Genetic tests related to Nephronophthisis:

id Genetic test Affiliating Genes
1 Nephronophthisis 29 24

Anatomical Context for Nephronophthisis

MalaCards organs/tissues related to Nephronophthisis:

39
Kidney, Liver, Bone, Retina

Publications for Nephronophthisis

Articles related to Nephronophthisis:

(show top 50) (show all 265)
id Title Authors Year
1
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28157543 )
2017
2
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
3
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. ( 28921755 )
2017
4
Nephronophthisis with brown tumor: Old and new problems. ( 28786156 )
2017
5
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. ( 28089251 )
2017
6
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
7
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
8
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. ( 26673778 )
2016
9
CaMKII as a Pathological Mediator of ER stress, Oxidative Stress and Mitochondrial Dysfunction in a Murine Model of Nephronophthisis. ( 27076647 )
2016
10
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. ( 27491411 )
2016
11
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. ( 27515926 )
2016
12
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis. ( 27053712 )
2016
13
Identification of an NPHP1 deletion causing adult form of nephronophthisis. ( 26037636 )
2015
14
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
15
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. ( 26083374 )
2015
16
Nephronophthisis: should we target cysts or fibrosis? ( 26219413 )
2015
17
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. ( 25726036 )
2015
18
Dietary flax oil rich in I+-linolenic acid reduces renal disease and oxylipin abnormalities, including formation of docosahexaenoic acid derived oxylipins in the CD1-pcy/pcy mouse model of nephronophthisis. ( 25512022 )
2015
19
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. ( 25851290 )
2015
20
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ( 25671767 )
2015
21
Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats. ( 26619107 )
2015
22
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2015
23
Nephronophthisis and related syndromes. ( 25635582 )
2015
24
Clinical and genetic characteristics of Japanese nephronophthisis patients. ( 26499951 )
2015
25
A family with five siblings affected with nephronophthisis. ( 24821164 )
2014
26
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
27
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. ( 23998563 )
2014
28
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis. ( 24178445 )
2014
29
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. ( 25401970 )
2014
30
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. ( 24946806 )
2014
31
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition. ( 25340510 )
2014
32
Nephronophthisis and Retinal Degeneration in Tmem218-/- Mice: A Novel Mouse Model for Senior-LA,ken Syndrome? ( 25161209 )
2014
33
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. ( 24610927 )
2014
34
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. ( 23713026 )
2013
35
The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. ( 24026243 )
2013
36
Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis. ( 24231489 )
2013
37
Working out nephronophthisis genetics one family at a time. ( 23687355 )
2013
38
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. ( 23661805 )
2013
39
Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes. ( 23549608 )
2013
40
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ( 23683649 )
2013
41
Nephronophthisis cannot be detected by urinary screening program. ( 22523277 )
2013
42
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. ( 23793029 )
2013
43
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. ( 23559409 )
2013
44
A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. ( 22899815 )
2012
45
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. ( 22982934 )
2012
46
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. ( 22106379 )
2012
47
Clinical spectrum and pathogenesis of nephronophthisis. ( 22388554 )
2012
48
Senior-LA,ken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. ( 22819833 )
2012
49
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease. ( 22563011 )
2012
50
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. ( 23188109 )
2012

Variations for Nephronophthisis

ClinVar genetic disease variations for Nephronophthisis:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
2 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
3 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
4 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
5 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh37 Chromosome 3, 132400921: 132400923
6 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh37 Chromosome 3, 132415642: 132415642
7 NPHP4 NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter) single nucleotide variant Pathogenic rs137852922 GRCh37 Chromosome 1, 5947496: 5947496
8 NPHP4 NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter) single nucleotide variant Pathogenic rs137852923 GRCh37 Chromosome 1, 5964848: 5964848
9 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
10 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh37 Chromosome 9, 103055234: 103055234
11 IQCB1 NM_001023570.3(IQCB1): c.1036G> T (p.Glu346Ter) single nucleotide variant Pathogenic rs387907009 GRCh37 Chromosome 3, 121509013: 121509013
12 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh38 Chromosome 16, 4335060: 4335060
13 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
14 NPHP3 NM_153240.4(NPHP3): c.1817G> A (p.Trp606Ter) single nucleotide variant Pathogenic rs182135982 GRCh38 Chromosome 3, 132699988: 132699988
15 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh37 Chromosome 12, 88476853: 88476854
16 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
17 NPHP1 NM_000272.3(NPHP1): c.(?_-1)_(*1_?)del deletion Pathogenic
18 NPHP1 NM_000272.3(NPHP1): c.-94_*455del deletion Pathogenic GRCh38 Chromosome 2, 110123336: 110205062
19 INVS NM_014425.4(INVS): c.1417delG (p.Ala473Glnfs) deletion Pathogenic rs878855332 GRCh37 Chromosome 9, 103015371: 103015371
20 INVS NM_014425.4(INVS): c.3125delA (p.Asn1042Thrfs) deletion Pathogenic rs878855333 GRCh37 Chromosome 9, 103062883: 103062883
21 CEP290 NM_025114.3(CEP290): c.5707A> T (p.Glu1903Ter) single nucleotide variant Pathogenic rs878855334 GRCh37 Chromosome 12, 88471001: 88471001
22 GLIS2 NM_032575.2(GLIS2): c.775+1G> T single nucleotide variant Pathogenic rs878855335 GRCh38 Chromosome 16, 4335394: 4335394
23 NPHP1 2q13 deletion (290 kb) deletion Pathogenic
24 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh37 Chromosome 2, 110926098: 110926098
25 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
26 IQCB1 NM_001023570.3(IQCB1): c.897_900dupCTTG (p.Ile301Leufs) duplication Pathogenic GRCh38 Chromosome 3, 121795543: 121795546
27 NPHP3 NM_153240.4(NPHP3): c.3156dupA (p.Ser1053Ilefs) duplication Pathogenic GRCh38 Chromosome 3, 132687196: 132687196
28 INVS NC_000009.12: g.(?_100104498)_(100104627_?)del deletion Pathogenic GRCh37 Chromosome 9, 102866780: 102866909

Copy number variations for Nephronophthisis from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134883 2 108600000 113800000 Microdeletion Nephronophthisis
2 135008 2 110200000 114400000 Deletion NPHP1 Nephronophthisis

Expression for Nephronophthisis

Search GEO for disease gene expression data for Nephronophthisis.

Pathways for Nephronophthisis

GO Terms for Nephronophthisis

Cellular components related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 CEP164 CEP290 CEP83 INPP5E INVS IQCB1
2 centrosome GO:0005813 9.88 CEP164 CEP290 IQCB1 NPHP4 RPGRIP1L TMEM67
3 microtubule organizing center GO:0005815 9.86 CEP290 IQCB1 NPHP4 RPGRIP1L
4 cell projection GO:0042995 9.77 ANKS6 CEP290 INPP5E INVS NEK8 NPHP1
5 centriole GO:0005814 9.76 CEP164 CEP290 CEP83 IQCB1
6 photoreceptor connecting cilium GO:0032391 9.73 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L WDR19
7 bicellular tight junction GO:0005923 9.71 NPHP1 NPHP4 RPGRIP1L
8 ciliary basal body GO:0036064 9.7 CEP290 NPHP4 RPGRIP1L
9 ciliary transition zone GO:0035869 9.62 CEP290 NPHP4 RPGRIP1L TMEM67
10 non-motile cilium GO:0097730 9.61 GLIS2 NPHP4 WDR19
11 ciliary base GO:0097546 9.55 NEK8 NPHP4
12 MKS complex GO:0036038 9.51 CEP290 TMEM67
13 ciliary transition fiber GO:0097539 9.49 CEP164 CEP83
14 intraciliary transport particle A GO:0030991 9.48 TTC21B WDR19
15 cilium GO:0005929 9.44 ANKS6 CEP290 INPP5E INVS NEK8 NPHP1
16 cytoplasm GO:0005737 10.27 ANKS6 CEP164 CEP290 CEP83 GLIS2 INPP5E

Biological processes related to Nephronophthisis according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.7 CEP164 CEP290 CEP83 IQCB1 NPHP1 TMEM67
2 kidney development GO:0001822 9.65 GLIS2 NPHP3 RPGRIP1L
3 determination of left/right symmetry GO:0007368 9.61 NEK8 NPHP3 RPGRIP1L
4 cilium assembly GO:0060271 9.56 CEP164 CEP290 CEP83 IQCB1 NPHP3 RPGRIP1L
5 photoreceptor cell maintenance GO:0045494 9.5 IQCB1 NPHP3 NPHP4
6 regulation of smoothened signaling pathway GO:0008589 9.49 RPGRIP1L TTC21B
7 intraciliary retrograde transport GO:0035721 9.46 TTC21B WDR19
8 maintenance of animal organ identity GO:0048496 9.4 IQCB1 NPHP3
9 visual behavior GO:0007632 9.37 NPHP1 NPHP4
10 positive regulation of bicellular tight junction assembly GO:1903348 9.26 NPHP1 NPHP4
11 ciliary basal body docking GO:0097711 9.23 CEP164 CEP290 CEP83 IQCB1 NPHP1 NPHP4

Molecular functions related to Nephronophthisis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 ANKS6 CEP164 CEP290 CEP83 GLIS2 INVS

Sources for Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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