MCID: JVN041
MIFTS: 43

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 6
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. Affiliated tissues include kidney, eye and retina, and related phenotypes are cellular and craniofacial

Wikipedia : 74 Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease... more...

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 131)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 32.5 NPHP4 NPHP3 NPHP1 MALL INVS
2 nephronophthisis 4 32.1 NPHP4 NPHP1
3 nephronophthisis 3 31.8 NPHP3-AS1 NPHP3-ACAD11 NPHP3 NPHP1
4 apraxia 30.6 TMEM67 NPHP1 CEP290
5 senior-loken syndrome 1 30.5 WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3
6 kidney disease 30.4 TMEM67 NPHP4 NPHP3 NPHP1 CEP290
7 interstitial nephritis 30.3 MAPKBP1 INVS ANKS6
8 congenital hepatic fibrosis 30.3 TMEM67 ANKS6
9 cogan syndrome 30.3 NPHP4 NPHP1 CEP290
10 retinal degeneration 30.2 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 CEP290
11 short-rib thoracic dysplasia 9 with or without polydactyly 30.0 WDR19 TTC21B
12 joubert syndrome 4 30.0 TTC21B TMEM67 NPHP4 NPHP1 IQCB1 CEP290
13 ciliopathy 29.8 TTC21B TMEM67 NPHP4 IQCB1 CEP290
14 coloboma of macula 29.7 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
15 cystic kidney disease 29.6 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
16 coach syndrome 1 29.5 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 IQCB1
17 retinitis pigmentosa 29.3 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
18 nephronophthisis 2 28.8 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
19 joubert syndrome 1 28.8 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
20 fundus dystrophy 28.7 WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3
21 nephronophthisis 28.0 WDR19 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3-AS1
22 alsing syndrome 11.1
23 arima syndrome 11.0
24 chronic kidney disease 10.4
25 cone-rod dystrophy 13 10.3 NPHP4 IQCB1
26 retinal ciliopathy 10.3 IQCB1 CEP290
27 joubert syndrome 15 10.3 NPHP4 NPHP1
28 joubert syndrome 14 10.3 NPHP4 NPHP1
29 neuroretinitis 10.3
30 retinitis 10.3
31 end stage renal disease 10.3
32 renal dysplasia, cystic 10.3 NPHP3 CEP290
33 senior-loken syndrome 6 10.3 CEP290 C12orf29
34 joubert syndrome 24 10.3 NPHP1 CEP290
35 leber congenital amaurosis 3 10.2 NPHP4 IQCB1 CEP290
36 joubert syndrome 10 10.2 TMEM67 NPHP1
37 late-onset nephronophthisis 10.2 NPHP3 MAPKBP1
38 leber congenital amaurosis 10 10.2 IQCB1 CEP290 C12orf29
39 renal-hepatic-pancreatic dysplasia 1 10.2 NPHP3-AS1 NPHP3-ACAD11 NPHP3
40 ocular motor apraxia 10.2
41 joubert syndrome 6 10.2 TMEM67 NPHP1 CEP290
42 meckel syndrome, type 7 10.2 NPHP3-AS1 NPHP3-ACAD11 NPHP3
43 leber congenital amaurosis 8 10.2 IQCB1 CEP290
44 joubert syndrome 7 10.2 TMEM67 NPHP1 CEP290
45 joubert syndrome 2 10.2 TMEM67 NPHP1 CEP290
46 meckel syndrome, type 8 10.2 TMEM67 NPHP3
47 polycystic kidney disease 2 with or without polycystic liver disease 10.2 TMEM67 NPHP4 INVS
48 meckel syndrome, type 2 10.2 TMEM67 NPHP4 CEP290
49 joubert syndrome 9 10.2 TMEM67 CEP290
50 orofaciodigital syndrome vi 10.2 TMEM67 NPHP1 CEP290

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 ADAMTS9 CEP290 GLIS2 INVS KITLG NPHP1
2 craniofacial MP:0005382 9.5 ADAMTS9 CEP290 KITLG NPHP3 TMEM67 TTC21B
3 renal/urinary system MP:0005367 9.23 CEP290 GLIS2 INVS NPHP1 NPHP3 NPHP4

Drugs & Therapeutics for Juvenile Nephronophthisis

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

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, Eye, Retina

Publications for Juvenile Nephronophthisis

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 202)
# Title Authors PMID Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 6
27158779 2016
2
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. 61
31402777 2021
3
Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. 61
33306870 2020
4
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. 61
30403813 2020
5
Bilateral primary renal diffuse large B-cell lymphoma: a rare presentation of paediatric renal disease mimicking juvenile nephronophthisis. 61
32675115 2020
6
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion. 61
32361464 2020
7
Living-Related Kidney Transplantation in a Patient with Juvenile Nephronophthisis. 61
32906116 2020
8
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. 61
31523374 2019
9
Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes. 61
30400223 2018
10
[Identification of a new mutation of the NPHP1 gene]. 61
29786190 2018
11
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. 61
29146700 2017
12
Juvenile nephronophthisis and dysthyroidism: a rare association. 61
28509138 2017
13
Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease. 61
28213931 2017
14
Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus. 61
28448550 2017
15
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]. 61
27806791 2016
16
Senior Loken Syndrome. 61
28050464 2016
17
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 61
27491411 2016
18
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. 61
27316287 2016
19
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. 61
27004562 2016
20
Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. 61
26198798 2015
21
Senior- loken syndrome - a ciliopathy. 61
25584255 2014
22
A family with five siblings affected with nephronophthisis. 61
24821164 2014
23
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 61
24674142 2013
24
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. 61
23683649 2013
25
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. 61
23569556 2013
26
The Senior-Loken syndrome: Two cases from the State of Qatar. 61
23205360 2012
27
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. 61
21265929 2011
28
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. 61
21486612 2011
29
End-stage juvenile nephronophthisis on MRI. 61
20182708 2010
30
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 61
20798123 2010
31
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? 61
20490483 2010
32
Senior-Loken syndrome in an Iranian family. 61
20587883 2010
33
Clinical and molecular features of Joubert syndrome and related disorders. 61
19876931 2009
34
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. 61
19208653 2009
35
Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. 61
18684731 2008
36
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. 61
17601928 2007
37
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. 61
25390787 2007
38
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 61
17160906 2007
39
Twins with senior-Loken syndrome. 61
17127790 2006
40
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. 61
17114995 2006
41
Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy. 61
16703380 2006
42
Renal cystic diseases: a review. 61
16462154 2006
43
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. 61
15723349 2005
44
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61
15786477 2005
45
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. 61
15661758 2005
46
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 61
15138899 2004
47
[Two cases of Senior-Loken syndrome]. 61
14969091 2004
48
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. 61
13679497 2003
49
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. 61
12953036 2003
50
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. 61
12746391 2003

Variations for Juvenile Nephronophthisis

ClinVar genetic disease variations for Juvenile Nephronophthisis:

6 (show top 50) (show all 1446)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1976del (p.Pro659fs) Deletion Pathogenic 836028 3:132418206-132418206 3:132699362-132699362
2 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1985+1G>A SNV Pathogenic 462725 rs1553773271 3:132418196-132418196 3:132699352-132699352
3 NPHP3-ACAD11 NM_153240.5(NPHP3):c.958-2A>G SNV Pathogenic 848816 3:132432132-132432132 3:132713288-132713288
4 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3003del (p.Phe1001fs) Deletion Pathogenic 853024 3:132407616-132407616 3:132688772-132688772
5 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) SNV Pathogenic 570632 rs758238787 3:132406067-132406067 3:132687223-132687223
6 NPHP3 NC_000003.12:g.(?_132681890)_(132684814_?)del Deletion Pathogenic 832293 3:132400734-132403658
7 NPHP1 NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del Deletion Pathogenic 224960
8 NPHP1 2q13 deletion (290 kb) Deletion Pathogenic 242361
9 MALL NC_000002.12:g.(?_110091603)_(110204968_?)del Deletion Pathogenic 830720 2:110849180-110962545
10 NPHP1 NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) SNV Pathogenic 838041 2:110922714-110922714 2:110165137-110165137
11 NPHP1 NC_000002.12:g.(?_110144493)_(110150256_?)del Deletion Pathogenic 833115 2:110902070-110907833
12 NPHP1 NC_000002.12:g.(?_110123791)_(110201494_?)del Deletion Pathogenic 833368 2:110881368-110959071
13 NPHP1 NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) Deletion Pathogenic 854284 2:110881425-110881425 2:110123848-110123848
14 NPHP4 NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) SNV Pathogenic 639470 rs758275952 1:5927947-5927947 1:5867887-5867887
15 NPHP3-AS1 NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) SNV Pathogenic 462730 rs773521620 3:132441140-132441140 3:132722296-132722296
16 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) SNV Pathogenic 571559 rs201237799 3:132410043-132410043 3:132691199-132691199
17 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) SNV Pathogenic 936828 3:132407950-132407950 3:132689106-132689106
18 NPHP4 NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter) SNV Pathogenic 939682 1:5965750-5965750 1:5905690-5905690
19 NPHP4 NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) Deletion Pathogenic 943026 1:6008281-6008288 1:5948221-5948228
20 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3812+1G>T SNV Pathogenic 944911 3:132401546-132401546 3:132682702-132682702
21 NPHP4 NM_015102.5(NPHP4):c.2304+1G>A SNV Pathogenic 949949 1:5950927-5950927 1:5890867-5890867
22 NPHP3-ACAD11 NM_153240.5(NPHP3):c.436del (p.Ser146fs) Deletion Pathogenic 946397 3:132438632-132438632 3:132719788-132719788
23 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) SNV Pathogenic 949269 3:132407508-132407508 3:132688664-132688664
24 NPHP1 NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) SNV Pathogenic 961075 2:110883250-110883250 2:110125673-110125673
25 NPHP1 NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) SNV Pathogenic 965173 2:110902109-110902109 2:110144532-110144532
26 NPHP4 NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) Deletion Pathogenic 562366 rs1368105372 1:5965415-5965418 1:5905355-5905358
27 NPHP3-ACAD11 NM_153240.5(NPHP3):c.410del (p.Tyr137fs) Deletion Pathogenic 571089 rs1560017690 3:132438658-132438658 3:132719814-132719814
28 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) SNV Pathogenic 573010 rs1560000875 3:132405124-132405124 3:132686280-132686280
29 NPHP1 NM_000272.4(NPHP1):c.1039C>T (p.Arg347Ter) SNV Pathogenic 579607 rs765263671 2:110919263-110919263 2:110161686-110161686
30 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) Duplication Pathogenic 411105 rs771215577 3:132406039-132406040 3:132687195-132687196
31 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) Duplication Pathogenic 571434 rs1560002147 3:132407662-132407663 3:132688818-132688819
32 NPHP1 NM_001128178.3(NPHP1):c.771+77_771+78del Microsatellite Pathogenic 861607 2:110922187-110922188 2:110164610-110164611
33 INVS NM_014425.5(INVS):c.3125del (p.Asn1042fs) Deletion Pathogenic 242359 rs878855333 9:103062882-103062882 9:100300600-100300600
34 GLIS2 NM_032575.2(GLIS2):c.775+1G>T SNV Pathogenic 242364 rs878855335 16:4385395-4385395 16:4335394-4335394
35 INVS NM_014425.5(INVS):c.1417del (p.Ala473fs) Deletion Pathogenic 242358 rs878855332 9:103015370-103015370 9:100253088-100253088
36 NPHP4 NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) Deletion Pathogenic 956880 1:5967200-5967201 1:5907140-5907141
37 INVS NM_014425.5(INVS):c.177_180dup (p.Leu61fs) Duplication Pathogenic 568738 rs1564123602 9:102888732-102888733 9:100126450-100126451
38 IQCB1 NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) SNV Pathogenic 569196 rs1280238814 3:121491467-121491467 3:121772620-121772620
39 INVS NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) SNV Pathogenic 531629 rs150001738 9:103046873-103046873 9:100284591-100284591
40 INVS NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) SNV Pathogenic 834292 9:103059384-103059384 9:100297102-100297102
41 INVS NM_014425.5(INVS):c.671_672CT[1] (p.Leu225fs) Microsatellite Pathogenic 859885 9:103002397-103002398 9:100240115-100240116
42 INVS NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) SNV Pathogenic 567470 rs1425211517 9:103059299-103059299 9:100297017-100297017
43 IQCB1 NC_000003.12:g.(?_121772557)_(121781874_?)del Deletion Pathogenic 830596 3:121491404-121500721
44 INVS NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) SNV Pathogenic 939728 9:103046819-103046819 9:100284537-100284537
45 IQCB1 NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) SNV Pathogenic 942614 3:121515979-121515979 3:121797132-121797132
46 IQCB1 NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) Insertion Pathogenic 967126 3:121514370-121514371 3:121795523-121795524
47 IQCB1 NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) SNV Pathogenic 167197 rs727503968 3:121508959-121508959 3:121790112-121790112
48 NPHP4 NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) SNV Pathogenic 596144 rs1210874691 1:5987793-5987793 1:5927733-5927733
49 NPHP4 NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) Duplication Pathogenic 496917 rs398124289 1:5935033-5935034 1:5874973-5874974
50 NPHP1 NM_000272.4(NPHP1):c.1184dup (p.Leu396fs) Duplication Pathogenic 92716 rs398123285 2:110917770-110917771 2:110160193-110160194

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
11.95 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1

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 cell projection GO:0042995 9.96 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
2 cytoskeleton GO:0005856 9.9 WDR19 TTC21B TMEM67 NPHP4 NPHP3-ACAD11 NPHP1
3 ciliary transition zone GO:0035869 9.58 TMEM67 NPHP4 CEP290
4 non-motile cilium GO:0097730 9.5 WDR19 NPHP4 GLIS2
5 MKS complex GO:0036038 9.46 TMEM67 CEP290
6 intraciliary transport particle A GO:0030991 9.43 WDR19 TTC21B
7 ciliary inversin compartment GO:0097543 9.37 INVS ANKS6
8 photoreceptor connecting cilium GO:0032391 9.35 WDR19 NPHP4 NPHP1 IQCB1 CEP290
9 cilium GO:0005929 9.32 WDR19 TTC21B TMEM67 NPHP4 NPHP3 NPHP1

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

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.63 NPHP3 GLIS2 ANKS6
2 cilium assembly GO:0060271 9.55 WDR19 TMEM67 NPHP3 IQCB1 CEP290
3 photoreceptor cell maintenance GO:0045494 9.5 NPHP4 NPHP3 IQCB1
4 intraciliary retrograde transport GO:0035721 9.43 WDR19 TTC21B
5 positive regulation of bicellular tight junction assembly GO:1903348 9.4 NPHP4 NPHP1
6 maintenance of animal organ identity GO:0048496 9.37 NPHP3 IQCB1
7 cell projection organization GO:0030030 9.35 WDR19 TMEM67 NPHP1 IQCB1 CEP290
8 visual behavior GO:0007632 9.26 NPHP4 NPHP1
9 ciliary basal body-plasma membrane docking GO:0097711 9.02 TMEM67 NPHP4 NPHP1 IQCB1 CEP290

Sources for Juvenile Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....