MCID: JVN041
MIFTS: 39

Juvenile Nephronophthisis

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Juvenile Nephronophthisis

MalaCards integrated aliases for Juvenile Nephronophthisis:

Name: Juvenile Nephronophthisis 58
Nephronophthisis, Familial Juvenile 71
Nephronophthisis 71

Characteristics:

Orphanet epidemiological data:

58
juvenile nephronophthisis
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 Q61.5
UMLS via Orphanet 72 C1855681
Orphanet 58 ORPHA93592
UMLS 71 C0687120 C1855681

Summaries for Juvenile Nephronophthisis

MalaCards based summary : Juvenile Nephronophthisis, also known as nephronophthisis, familial juvenile, is related to nephronophthisis 1 and nephronophthisis 4, and has symptoms including polydipsia and polyuria. An important gene associated with Juvenile Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, and related phenotypes are cellular and renal/urinary system

Related Diseases for Juvenile Nephronophthisis

Diseases in the Nephronophthisis family:

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

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 33.2 NPHP4 NPHP3 NPHP1 INVS
2 nephronophthisis 4 32.9 NPHP4 NPHP1
3 senior-loken syndrome 1 30.9 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
4 end stage renal disease 30.7 NPHP4 NPHP3 INVS
5 joubert syndrome 4 30.4 NPHP4 NPHP1
6 cogan syndrome 30.3 NPHP4 NPHP1
7 coloboma of macula 29.9 NPHP4 NPHP3 NPHP1 IQCB1
8 ciliopathy 29.8 WDR19 NPHP4
9 coach syndrome 29.7 NPHP4 NPHP3 NPHP1 IQCB1
10 interstitial nephritis 29.6 MAPKBP1 INVS ANKS6
11 retinitis pigmentosa 29.1 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
12 cystic kidney disease 29.0 NPHP4 NPHP3 NPHP1 INVS GLIS2 ANKS6
13 joubert syndrome 1 28.5 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
14 nephronophthisis 2 28.3 NPHP4 NPHP3 NPHP1 IQCB1 INVS GLIS2
15 nephronophthisis 28.3 WDR19 NPHP4 NPHP3 NPHP1 MAPKBP1 MALL
16 fundus dystrophy 28.2 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
17 medullary cystic kidney disease 1 11.6
18 nephronophthisis 3 11.6
19 alsing syndrome 11.3
20 arima syndrome 11.3
21 kidney disease 10.4
22 neuroretinitis 10.4
23 retinitis 10.4
24 retinal degeneration 10.4
25 apraxia 10.3
26 ocular motor apraxia 10.3
27 joubert syndrome 15 10.2 NPHP4 NPHP1
28 joubert syndrome 8 10.2 NPHP3 NPHP1
29 meckel syndrome, type 4 10.2 NPHP3 NPHP1
30 fibrosis of extraocular muscles, congenital, 1 10.2
31 ataxia and polyneuropathy, adult-onset 10.2
32 pathologic nystagmus 10.2
33 cone-rod dystrophy 13 10.2 NPHP4 IQCB1
34 meckel syndrome, type 2 10.2 NPHP4 NPHP1
35 meckel syndrome, type 5 10.1 NPHP4 NPHP1
36 short-rib thoracic dysplasia 9 with or without polydactyly 10.1
37 yemenite deaf-blind hypopigmentation syndrome 10.1
38 renal fibrosis 10.1
39 congenital hepatic fibrosis 10.1
40 inherited retinal disorder 10.1
41 hyperuricemic nephropathy, familial juvenile, 1 10.1 NPHP4 NPHP1
42 retinal aplasia 10.1 NPHP4 NPHP1 IQCB1
43 meckel syndrome, type 6 10.0 NPHP4 NPHP3 NPHP1
44 alstrom syndrome 10.0 NPHP3 NPHP1
45 peripheral dysostosis 10.0
46 renal tubular dysgenesis 10.0
47 rhyns syndrome 10.0
48 hyperphosphatemia 10.0
49 multinodular goiter 10.0
50 autosomal recessive disease 10.0

Graphical network of the top 20 diseases related to Juvenile Nephronophthisis:



Diseases related to Juvenile Nephronophthisis

Symptoms & Phenotypes for Juvenile Nephronophthisis

UMLS symptoms related to Juvenile Nephronophthisis:


polydipsia, polyuria

MGI Mouse Phenotypes related to Juvenile Nephronophthisis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 ADAMTS9 GLIS2 INVS NPHP1 NPHP3 NPHP4
2 renal/urinary system MP:0005367 9.02 GLIS2 INVS NPHP1 NPHP3 NPHP4

Drugs & Therapeutics for Juvenile Nephronophthisis

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis Completed NCT01022957
2 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005 Not yet recruiting NCT04184531

Search NIH Clinical Center for Juvenile Nephronophthisis

Genetic Tests for Juvenile Nephronophthisis

Anatomical Context for Juvenile Nephronophthisis

MalaCards organs/tissues related to Juvenile Nephronophthisis:

40
Kidney, Liver, Eye, Retina

Publications for Juvenile Nephronophthisis

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion. 61
32361464 2020
2
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. 61
31402777 2019
3
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. 61
31523374 2019
4
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. 61
30403813 2018
5
Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes. 61
30400223 2018
6
[Identification of a new mutation of the NPHP1 gene]. 61
29786190 2018
7
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. 61
29146700 2017
8
Juvenile nephronophthisis and dysthyroidism: a rare association. 61
28509138 2017
9
Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease. 61
28213931 2017
10
Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus. 61
28448550 2017
11
Senior Loken Syndrome. 61
28050464 2016
12
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. 61
27806791 2016
13
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 61
27491411 2016
14
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. 61
27316287 2016
15
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. 61
27004562 2016
16
Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. 61
26198798 2015
17
Senior- loken syndrome - a ciliopathy. 61
25584255 2014
18
A family with five siblings affected with nephronophthisis. 61
24821164 2014
19
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 61
24674142 2013
20
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. 61
23683649 2013
21
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. 61
23569556 2013
22
The Senior-Loken syndrome: Two cases from the State of Qatar. 61
23205360 2012
23
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. 61
21265929 2011
24
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. 61
21486612 2011
25
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 61
20798123 2010
26
End-stage juvenile nephronophthisis on MRI. 61
20182708 2010
27
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? 61
20490483 2010
28
Senior-Loken syndrome in an Iranian family. 61
20587883 2010
29
Clinical and molecular features of Joubert syndrome and related disorders. 61
19876931 2009
30
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. 61
19208653 2009
31
Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. 61
18684731 2008
32
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. 61
17601928 2007
33
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. 61
25390787 2007
34
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 61
17160906 2007
35
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. 61
17114995 2006
36
Twins with senior-Loken syndrome. 61
17127790 2006
37
Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy. 61
16703380 2006
38
Renal cystic diseases: a review. 61
16462154 2006
39
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. 61
15723349 2005
40
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61
15786477 2005
41
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. 61
15661758 2005
42
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 61
15138899 2004
43
[Two cases of Senior-Loken syndrome]. 61
14969091 2004
44
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. 61
13679497 2003
45
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. 61
12953036 2003
46
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. 61
12746391 2003
47
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. 61
12699867 2003
48
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. 61
12234310 2002
49
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 61
12244321 2002
50
Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. 61
12006559 2002

Variations for Juvenile Nephronophthisis

ClinVar genetic disease variations for Juvenile Nephronophthisis:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 NM_000272.4(NPHP1):c.1520+1deldeletion Pathogenic 462705 rs747861275 2:110904329-110904329 2:110146752-110146752
2 NPHP1 NM_000272.4(NPHP1):c.1529_1530del (p.Glu510fs)deletion Pathogenic 436026 rs1553484094 2:110902137-110902138 2:110144560-110144561
3 NPHP1 deletion Pathogenic 453297 2:110852960-110975102 2:110095383-110217525
4 MALL , NPHP1 GRCh37/hg19 2q13(chr2:110862477-110983703)copy number loss Pathogenic 625824 2:110862477-110983703
5 NPHP1 NM_000272.4(NPHP1):c.1884+1G>TSNV Pathogenic 3507 rs1233478832 2:110886762-110886762 2:110129185-110129185
6 NPHP1 NM_000272.4(NPHP1):c.80T>A (p.Leu27Ter)SNV Pathogenic 3509 rs121907898 2:110959061-110959061 2:110201484-110201484
7 NPHP1 NM_000272.4(NPHP1):c.1027G>A (p.Gly343Arg)SNV Pathogenic 3510 rs121907899 2:110920625-110920625 2:110163048-110163048
8 NPHP1 NPHP1, DELdeletion Pathogenic 3511
9 NPHP1 NM_000272.4(NPHP1):c.555dup (p.Pro186fs)duplication Pathogenic 283524 rs766524637 2:110926097-110926098 2:110168520-110168521
10 NPHP1 NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)SNV Conflicting interpretations of pathogenicity 287345 rs140469160 2:110919181-110919181 2:110161604-110161604
11 NPHP1 NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)SNV Conflicting interpretations of pathogenicity 288369 rs114250691 2:110920681-110920681 2:110163104-110163104
12 NPHP1 NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)SNV Conflicting interpretations of pathogenicity 330730 rs149887461 2:110901179-110901179 2:110143602-110143602
13 NPHP1 NM_000272.4(NPHP1):c.456A>G (p.Ser152=)SNV Conflicting interpretations of pathogenicity 330738 rs143163969 2:110927449-110927449 2:110169872-110169872
14 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=)SNV Conflicting interpretations of pathogenicity 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
15 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158
16 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
17 NPHP1 NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)SNV Conflicting interpretations of pathogenicity 193569 rs371112962 2:110919267-110919267 2:110161690-110161690
18 NPHP1 NM_000272.4(NPHP1):c.1438-4C>TSNV Conflicting interpretations of pathogenicity 194327 rs151204566 2:110904416-110904416 2:110146839-110146839
19 NPHP1 NM_001128178.3(NPHP1):c.*194T>CSNV Conflicting interpretations of pathogenicity 894599 2:110881174-110881174 2:110123597-110123597
20 NPHP1 NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)SNV Uncertain significance 892573 2:110881598-110881598 2:110124021-110124021
21 NPHP1 NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)SNV Uncertain significance 894221 2:110886786-110886786 2:110129209-110129209
22 NPHP1 NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)SNV Uncertain significance 894222 2:110889364-110889364 2:110131787-110131787
23 NPHP1 NM_001128178.3(NPHP1):c.771+148G>TSNV Uncertain significance 894647 2:110922117-110922117 2:110164540-110164540
24 NPHP1 NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)SNV Uncertain significance 894667 2:110927553-110927553 2:110169976-110169976
25 NPHP1 NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)SNV Uncertain significance 894668 2:110936089-110936089 2:110178512-110178512
26 NPHP1 NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)SNV Uncertain significance 892675 2:110959004-110959004 2:110201427-110201427
27 NPHP1 NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)SNV Uncertain significance 893477 2:110962516-110962516 2:110204939-110204939
28 NPHP1 NM_001128178.3(NPHP1):c.*238T>CSNV Uncertain significance 894188 2:110881130-110881130 2:110123553-110123553
29 NPHP1 NM_001128178.3(NPHP1):c.*199A>GSNV Uncertain significance 894189 2:110881169-110881169 2:110123592-110123592
30 NPHP1 NM_000272.4(NPHP1):c.940-5T>CSNV Uncertain significance 498608 rs201478764 2:110920717-110920717 2:110163140-110163140
31 NPHP1 NM_000272.4(NPHP1):c.1929+5A>CSNV Uncertain significance 566103 rs201030203 2:110883209-110883209 2:110125632-110125632
32 NPHP1 NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser)SNV Uncertain significance 594808 rs769509705 2:110927445-110927445 2:110169868-110169868
33 NPHP1 NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln)SNV Uncertain significance 216416 rs780427871 2:110881541-110881541 2:110123964-110123964
34 NPHP1 NC_000002.12:g.110205022G>ASNV Uncertain significance 893777 2:110962599-110962599 2:110205022-110205022
35 NPHP1 NC_000002.12:g.110123331A>TSNV Uncertain significance 893357 2:110880908-110880908
36 NPHP1 NM_001128178.3(NPHP1):c.1717-5T>GSNV Uncertain significance 893387 2:110883263-110883263 2:110125686-110125686
37 NPHP1 NM_001128178.3(NPHP1):c.1716+15T>CSNV Uncertain significance 893388 2:110886748-110886748 2:110129171-110129171
38 NPHP1 NM_001128178.3(NPHP1):c.771+178C>TSNV Uncertain significance 894253 2:110922087-110922087 2:110164510-110164510
39 NPHP1 NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)SNV Uncertain significance 330737 rs886054756 2:110926060-110926060 2:110168483-110168483
40 NPHP1 NM_000272.4(NPHP1):c.*250C>TSNV Uncertain significance 330726 rs150558683 2:110881118-110881118 2:110123541-110123541
41 NPHP1 NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)SNV Uncertain significance 330733 rs886054754 2:110920664-110920664 2:110163087-110163087
42 NPHP1 NM_000272.4(NPHP1):c.669C>T (p.Gly223=)SNV Uncertain significance 330736 rs886054755 2:110922688-110922688 2:110165111-110165111
43 NPHP1 NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)SNV Uncertain significance 330732 rs375907280 2:110905597-110905597 2:110148020-110148020
44 NPHP1 NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)SNV Uncertain significance 330731 rs886054753 2:110904403-110904403 2:110146826-110146826
45 NPHP1 NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)SNV Uncertain significance 330735 rs139787582 2:110922176-110922176 2:110164599-110164599
46 NPHP1 NM_000272.4(NPHP1):c.*322A>GSNV Uncertain significance 330725 rs886054752 2:110881046-110881046 2:110123469-110123469
47 NPHP1 NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)SNV Uncertain significance 330727 rs200631256 2:110881470-110881470 2:110123893-110123893
48 NPHP1 NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)SNV Uncertain significance 330728 rs138181219 2:110883254-110883254 2:110125677-110125677
49 NPHP1 NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)SNV Uncertain significance 330729 rs573192954 2:110901126-110901126 2:110143549-110143549
50 NPHP1 NM_001128178.3(NPHP1):c.-17G>ASNV Likely benign 893478 2:110962562-110962562 2:110204985-110204985

Expression for Juvenile Nephronophthisis

Search GEO for disease gene expression data for Juvenile Nephronophthisis.

Pathways for Juvenile Nephronophthisis

Pathways related to Juvenile Nephronophthisis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 WDR19 NPHP4 NPHP3 NPHP1 IQCB1

GO Terms for Juvenile Nephronophthisis

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 WDR19 NPHP4 NPHP1 MAPKBP1 IQCB1 INVS
2 cell projection GO:0042995 9.73 WDR19 NPHP4 NPHP3 NPHP1 INVS ANKS6
3 cilium GO:0005929 9.43 WDR19 NPHP4 NPHP3 NPHP1 INVS ANKS6
4 non-motile cilium GO:0097730 9.33 WDR19 NPHP4 GLIS2
5 photoreceptor connecting cilium GO:0032391 8.92 WDR19 NPHP4 NPHP1 IQCB1

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.61 WDR19 NPHP3 IQCB1
2 cell projection organization GO:0030030 9.58 WDR19 NPHP1 IQCB1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.54 NPHP4 NPHP3 INVS
4 ciliary basal body-plasma membrane docking GO:0097711 9.5 NPHP4 NPHP1 IQCB1
5 retina development in camera-type eye GO:0060041 9.46 NPHP4 NPHP1
6 positive regulation of bicellular tight junction assembly GO:1903348 9.26 NPHP4 NPHP1
7 maintenance of animal organ identity GO:0048496 9.16 NPHP3 IQCB1
8 visual behavior GO:0007632 8.96 NPHP4 NPHP1
9 photoreceptor cell maintenance GO:0045494 8.8 NPHP4 NPHP3 IQCB1

Sources for Juvenile Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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