NPHP9
MCID: NPH035
MIFTS: 44

Nephronophthisis 9 (NPHP9)

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

Aliases & Classifications for Nephronophthisis 9

MalaCards integrated aliases for Nephronophthisis 9:

Name: Nephronophthisis 9 57 12 72 29 13 6 15 70
Nphp9 57 12 72
Nephronophthisis, Type 9 39

Characteristics:

HPO:

31
nephronophthisis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111120
OMIM® 57 613824
OMIM Phenotypic Series 57 PS256100
MeSH 44 D052177
MedGen 41 C3151188
SNOMED-CT via HPO 68 204958008 258211005 433146000
UMLS 70 C3151188

Summaries for Nephronophthisis 9

OMIM® : 57 Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008). For a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100). (613824) (Updated 20-May-2021)

MalaCards based summary : Nephronophthisis 9, also known as nphp9, is related to nephronophthisis 4 and ciliopathy. An important gene associated with Nephronophthisis 9 is NEK8 (NIMA Related Kinase 8), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and eye, and related phenotypes are nephronophthisis and stage 5 chronic kidney disease

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the NEK8 gene on chromosome 17q11.

UniProtKB/Swiss-Prot : 72 Nephronophthisis 9: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

Related Diseases for Nephronophthisis 9

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 Nephronophthisis 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 4 29.9 NPHP4 NPHP1
2 ciliopathy 29.2 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 CEP290
3 cystic kidney disease 28.5 TMEM67 NPHP4 NPHP3 NPHP1 NEK9 NEK8
4 nephronophthisis 25.6 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
5 nephronophthisis 2 25.4 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
6 retinal ciliopathy 10.2 IQCB1 CEP290
7 renal dysplasia, cystic 10.2 NPHP3 CEP290
8 leber congenital amaurosis 13 10.2 IQCB1 CEP290
9 caroli disease 10.2 NPHP3 NPHP1 INVS
10 cone-rod dystrophy 13 10.2 RPGRIP1L NPHP4 IQCB1
11 polycystic liver disease 10.2 TMEM67 NEK8 INVS
12 joubert syndrome 15 10.2 RPGRIP1L NPHP4 NPHP1
13 simpson-golabi-behmel syndrome, type 2 10.2 SDCCAG8 CEP290
14 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
15 interstitial nephritis 10.1 INVS CEP164 ANKS6
16 orofaciodigital syndrome i 10.1 CEP290 CEP164
17 leber congenital amaurosis 10 10.1 IQCB1 CEP290
18 leber congenital amaurosis 6 10.0 MKS1 CEP290
19 bardet-biedl syndrome 13 10.0 MKS1 CEP290
20 bardet-biedl syndrome 16 10.0 SDCCAG8 MKS1
21 arima syndrome 10.0 TMEM216 NPHP4 CEP290
22 johanson-blizzard syndrome 10.0 TMEM216 RPGRIP1L CEP290
23 joubert syndrome 14 9.9 TMEM216 NPHP4 B9D2
24 oligohydramnios 9.9 TMEM67 MKS1 INVS
25 leber congenital amaurosis 4 9.9 IQCB1 CEP290
26 nephronophthisis 3 9.9
27 end stage renal disease 9.9
28 alstrom syndrome 9.8 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
29 pathologic nystagmus 9.8 TMEM67 MKS1 CEP290
30 short-rib thoracic dysplasia 6 with or without polydactyly 9.8 TTC21B TMEM67 TMEM216
31 bardet-biedl syndrome 11 9.8 SDCCAG8 RPGRIP1L MKS1 CEP290
32 infantile nephronophthisis 9.8 TTC21B NPHP4 NPHP3 NEK8 INVS ANKS6
33 physical disorder 9.8 TMEM67 MKS1 INVS CEP290
34 bardet-biedl syndrome 6 9.7 SDCCAG8 RPGRIP1L MKS1 INVS CEP290
35 ellis-van creveld syndrome 9.7 TTC21B TMEM216 RPGRIP1L INVS CEP290
36 retinal aplasia 9.7 TTC21B SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
37 encephalocele 9.7 TMEM67 MKS1 CEP290 B9D2
38 meckel syndrome, type 7 9.7 TMEM216 NPHP3 MKS1 B9D2
39 polycystic kidney disease 2 with or without polycystic liver disease 9.7 TMEM67 NPHP4 NEK9 NEK8 MKS1 INVS
40 congenital hepatic fibrosis 9.6 TMEM67 RPGRIP1L ANKS6 AHI1
41 orofaciodigital syndrome 9.6 TMEM67 TMEM216 DCAF8 CEP290 CEP164
42 cogan syndrome 9.6 RPGRIP1L NPHP4 NPHP1 CEP290 AHI1
43 apraxia 9.6 TMEM67 NPHP1 CEP290 AHI1
44 renal-hepatic-pancreatic dysplasia 9.6 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK8 IQCB1
45 acrocallosal syndrome 9.6 TMEM216 RPGRIP1L NPHP1 AHI1
46 nephronophthisis 18 9.6 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 IQCB1
47 polydactyly 9.5 TTC21B TMEM67 SDCCAG8 MKS1 CEP290
48 joubert syndrome 24 9.5 RPGRIP1L NPHP1 CEP290 CEP164 AHI1
49 usher syndrome 9.5 RPGRIP1L IQCB1 CEP290 AHI1
50 polycystic kidney disease 9.5 TMEM67 NPHP3 NEK8 MKS1 INVS CEP290

Graphical network of the top 20 diseases related to Nephronophthisis 9:



Diseases related to Nephronophthisis 9

Symptoms & Phenotypes for Nephronophthisis 9

Human phenotypes related to Nephronophthisis 9:

31
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 31 very rare (1%) HP:0000090
2 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
3 renal cortical microcysts 31 very rare (1%) HP:0004734

Clinical features from OMIM®:

613824 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 9:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AHI1 B9D2 CEP290 GLIS2 INVS MKS1
2 cardiovascular system MP:0005385 10.3 ANKS6 B9D2 CEP290 DCAF8 INVS MKS1
3 growth/size/body region MP:0005378 10.25 AHI1 ANKS6 B9D2 CEP290 DCAF8 INVS
4 homeostasis/metabolism MP:0005376 10.25 AHI1 B9D2 CEP164 CEP290 DCAF8 GLIS2
5 mortality/aging MP:0010768 10.16 AHI1 ANKS6 B9D2 CEP164 CEP290 GLIS2
6 embryo MP:0005380 10.11 ANKS6 B9D2 INVS MKS1 NEK9 NPHP3
7 immune system MP:0005387 10.11 AHI1 B9D2 CEP290 DCAF8 GLIS2 INVS
8 craniofacial MP:0005382 10.1 B9D2 CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8
9 digestive/alimentary MP:0005381 10.02 B9D2 INVS MKS1 NEK8 RPGRIP1L SDCCAG8
10 liver/biliary system MP:0005370 9.92 ANKS6 B9D2 CEP290 DCAF8 INVS MKS1
11 nervous system MP:0003631 9.9 AHI1 B9D2 CEP290 MKS1 NPHP1 NPHP3
12 renal/urinary system MP:0005367 9.8 AHI1 B9D2 CEP290 GLIS2 INVS MKS1
13 respiratory system MP:0005388 9.23 ANKS6 B9D2 CEP290 DCAF8 INVS MKS1

Drugs & Therapeutics for Nephronophthisis 9

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 9

Genetic Tests for Nephronophthisis 9

Genetic tests related to Nephronophthisis 9:

# Genetic test Affiliating Genes
1 Nephronophthisis 9 29 NEK8

Anatomical Context for Nephronophthisis 9

MalaCards organs/tissues related to Nephronophthisis 9:

40
Kidney, Liver, Eye

Publications for Nephronophthisis 9

Articles related to Nephronophthisis 9:

(show all 17)
# Title Authors PMID Year
1
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. 57 6 61
18199800 2008
2
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. 61 6
26967905 2016
3
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. 61 6
23418306 2013
4
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. 6 61
23026745 2012
5
Untargeted gas chromatography-mass spectrometry-based metabolomics analysis of kidney and liver tissue from the Lewis Polycystic Kidney rat. 61
31005771 2019
6
Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease. 61
30601830 2019
7
Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis. 61
29436846 2018
8
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. 61
26697755 2016
9
Effects of TORC1 Inhibition during the Early and Established Phases of Polycystic Kidney Disease. 61
27723777 2016
10
Pyrrolidine dithiocarbamate reduces the progression of total kidney volume and cyst enlargement in experimental polycystic kidney disease. 61
25501440 2014
11
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 61
23793029 2013
12
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. 61
23973373 2013
13
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. 61
22687244 2012
14
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. 61
22106379 2012
15
Differential expression of renal proteins in a rodent model of Meckel syndrome. 61
20693816 2011
16
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 61
20179356 2010
17
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. 61
20169535 2010

Variations for Nephronophthisis 9

ClinVar genetic disease variations for Nephronophthisis 9:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK8 NM_178170.3(NEK8):c.1273C>T (p.His425Tyr) SNV Pathogenic 1488 rs118204032 GRCh37: 17:27065739-27065739
GRCh38: 17:28738721-28738721
2 NEK8 NM_178170.3(NEK8):c.743del (p.Pro248fs) Deletion Pathogenic 471779 rs1555564134 GRCh37: 17:27064447-27064447
GRCh38: 17:28737429-28737429
3 NEK8 NM_178170.3(NEK8):c.889+1G>T SNV Likely pathogenic 539140 rs780247729 GRCh37: 17:27064755-27064755
GRCh38: 17:28737737-28737737
4 NEK8 NM_178170.3(NEK8):c.889+2del Deletion Likely pathogenic 539141 rs1555564214 GRCh37: 17:27064756-27064756
GRCh38: 17:28737738-28737738
5 NEK8 NM_178170.3(NEK8):c.828-1G>C SNV Likely pathogenic 839540 GRCh37: 17:27064692-27064692
GRCh38: 17:28737674-28737674
6 NEK8 NM_178170.3(NEK8):c.985A>G (p.Met329Val) SNV Uncertain significance 853121 GRCh37: 17:27064932-27064932
GRCh38: 17:28737914-28737914
7 NEK8 NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg) SNV Uncertain significance 322480 rs202102961 GRCh37: 17:27065134-27065134
GRCh38: 17:28738116-28738116
8 NEK8 NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) SNV Uncertain significance 490180 rs773883764 GRCh37: 17:27068167-27068167
GRCh38: 17:28741149-28741149
9 NEK8 NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg) SNV Uncertain significance 889068 GRCh37: 17:27066218-27066218
GRCh38: 17:28739200-28739200
10 NEK8 NM_178170.3(NEK8):c.1539T>C (p.Pro513=) SNV Uncertain significance 698255 rs368315047 GRCh37: 17:27067602-27067602
GRCh38: 17:28740584-28740584
11 NEK8 NM_178170.3(NEK8):c.1793G>A (p.Arg598His) SNV Uncertain significance 889069 GRCh37: 17:27068156-27068156
GRCh38: 17:28741138-28741138
12 NEK8 NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly) SNV Uncertain significance 889070 GRCh37: 17:27068158-27068158
GRCh38: 17:28741140-28741140
13 NEK8 NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln) SNV Uncertain significance 889071 GRCh37: 17:27068464-27068464
GRCh38: 17:28741446-28741446
14 NEK8 NM_178170.3(NEK8):c.*575A>C SNV Uncertain significance 889134 GRCh37: 17:27069580-27069580
GRCh38: 17:28742562-28742562
15 NEK8 NM_178170.3(NEK8):c.*582C>A SNV Uncertain significance 889135 GRCh37: 17:27069587-27069587
GRCh38: 17:28742569-28742569
16 NEK8 NM_178170.3(NEK8):c.139G>T (p.Ala47Ser) SNV Uncertain significance 571707 rs1567759132 GRCh37: 17:27061092-27061092
GRCh38: 17:28734074-28734074
17 NEK8 NM_178170.3(NEK8):c.419G>A (p.Arg140His) SNV Uncertain significance 581075 rs141599330 GRCh37: 17:27061955-27061955
GRCh38: 17:28734937-28734937
18 NEK8 NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) SNV Uncertain significance 198630 rs199933041 GRCh37: 17:27065002-27065002
GRCh38: 17:28737984-28737984
19 NEK8 NM_178170.3(NEK8):c.141del (p.Ala48fs) Deletion Uncertain significance 632273 rs1567759133 GRCh37: 17:27061094-27061094
GRCh38: 17:28734076-28734076
20 NEK8 NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs) Duplication Uncertain significance 632274 rs1567761332 GRCh37: 17:27066132-27066133
GRCh38: 17:28739114-28739115
21 NEK8 NM_178170.3(NEK8):c.2016dup (p.Cys673fs) Duplication Uncertain significance 632275 rs1567762509 GRCh37: 17:27068553-27068554
GRCh38: 17:28741535-28741536
22 NEK8 NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) SNV Uncertain significance 198630 rs199933041 GRCh37: 17:27065002-27065002
GRCh38: 17:28737984-28737984
23 NEK8 NM_178170.3(NEK8):c.656C>A (p.Thr219Asn) SNV Uncertain significance 639821 rs1597806441 GRCh37: 17:27064361-27064361
GRCh38: 17:28737343-28737343
24 NEK8 NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) SNV Uncertain significance 642736 rs56286645 GRCh37: 17:27064923-27064923
GRCh38: 17:28737905-28737905
25 NEK8 NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) SNV Uncertain significance 650630 rs199823733 GRCh37: 17:27065712-27065712
GRCh38: 17:28738694-28738694
26 NEK8 NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) SNV Uncertain significance 593252 rs1567759130 GRCh37: 17:27061086-27061086
GRCh38: 17:28734068-28734068
27 NEK8 NM_178170.3(NEK8):c.899G>A (p.Arg300Gln) SNV Uncertain significance 891255 GRCh37: 17:27064846-27064846
GRCh38: 17:28737828-28737828
28 NEK8 NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) SNV Uncertain significance 698270 rs372172665 GRCh37: 17:27064986-27064986
GRCh38: 17:28737968-28737968
29 NEK8 NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu) SNV Uncertain significance 891256 GRCh37: 17:27065117-27065117
GRCh38: 17:28738099-28738099
30 NEK8 NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr) SNV Uncertain significance 891257 GRCh37: 17:27065119-27065119
GRCh38: 17:28738101-28738101
31 NEK8 NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) SNV Uncertain significance 619062 rs374175041 GRCh37: 17:27065141-27065141
GRCh38: 17:28738123-28738123
32 NEK8 NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) SNV Uncertain significance 891258 GRCh37: 17:27065186-27065186
GRCh38: 17:28738168-28738168
33 NEK8 NM_178170.3(NEK8):c.*382G>A SNV Uncertain significance 891304 GRCh37: 17:27069387-27069387
GRCh38: 17:28742369-28742369
34 NEK8 NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn) SNV Uncertain significance 892446 GRCh37: 17:27065698-27065698
GRCh38: 17:28738680-28738680
35 NEK8 NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) SNV Uncertain significance 892447 GRCh37: 17:27065718-27065718
GRCh38: 17:28738700-28738700
36 NEK8 NM_178170.3(NEK8):c.1300-13C>A SNV Uncertain significance 892448 GRCh37: 17:27066089-27066089
GRCh38: 17:28739071-28739071
37 NEK8 NM_178170.3(NEK8):c.*474G>A SNV Uncertain significance 892498 GRCh37: 17:27069479-27069479
GRCh38: 17:28742461-28742461
38 NEK8 NM_178170.3(NEK8):c.*523C>T SNV Uncertain significance 892499 GRCh37: 17:27069528-27069528
GRCh38: 17:28742510-28742510
39 NEK8 NM_178170.3(NEK8):c.*526A>G SNV Uncertain significance 892500 GRCh37: 17:27069531-27069531
GRCh38: 17:28742513-28742513
40 NEK8 NM_178170.3(NEK8):c.*574A>C SNV Uncertain significance 892501 GRCh37: 17:27069579-27069579
GRCh38: 17:28742561-28742561
41 NEK8 NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) SNV Uncertain significance 943025 GRCh37: 17:27055853-27055853
GRCh38: 17:28728835-28728835
42 NEK8 NM_178170.3(NEK8):c.1177A>G (p.Ile393Val) SNV Uncertain significance 946930 GRCh37: 17:27065218-27065218
GRCh38: 17:28738200-28738200
43 NEK8 NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) SNV Uncertain significance 951284 GRCh37: 17:27068454-27068454
GRCh38: 17:28741436-28741436
44 NEK8 NM_178170.3(NEK8):c.1406G>A (p.Arg469His) SNV Uncertain significance 965455 GRCh37: 17:27066208-27066208
GRCh38: 17:28739190-28739190
45 NEK8 NM_178170.3(NEK8):c.881G>A (p.Arg294His) SNV Uncertain significance 965932 GRCh37: 17:27064746-27064746
GRCh38: 17:28737728-28737728
46 NEK8 NM_178170.3(NEK8):c.737G>A (p.Arg246Gln) SNV Uncertain significance 969449 GRCh37: 17:27064442-27064442
GRCh38: 17:28737424-28737424
47 NEK8 NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) SNV Uncertain significance 971691 GRCh37: 17:27065207-27065207
GRCh38: 17:28738189-28738189
48 NEK8 NM_178170.3(NEK8):c.1523T>A (p.Met508Lys) SNV Uncertain significance 1002646 GRCh37: 17:27067586-27067586
GRCh38: 17:28740568-28740568
49 NEK8 NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) Deletion Uncertain significance 1004174 GRCh37: 17:27069003-27069003
GRCh38: 17:28741985-28741985
50 NEK8 NM_178170.3(NEK8):c.673G>C (p.Asp225His) SNV Uncertain significance 1008743 GRCh37: 17:27064378-27064378
GRCh38: 17:28737360-28737360

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 9:

72
# Symbol AA change Variation ID SNP ID
1 NEK8 p.Leu330Phe VAR_065769 rs199962228
2 NEK8 p.His425Tyr VAR_065770 rs118204032
3 NEK8 p.Ala497Pro VAR_065771 rs146326420

Expression for Nephronophthisis 9

Search GEO for disease gene expression data for Nephronophthisis 9.

Pathways for Nephronophthisis 9

GO Terms for Nephronophthisis 9

Cellular components related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
2 cytosol GO:0005829 10.38 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1
3 cytoskeleton GO:0005856 10.24 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
4 microtubule organizing center GO:0005815 10.05 SDCCAG8 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1
5 centriole GO:0005814 9.95 SDCCAG8 MKS1 IQCB1 CEP290 CEP164 AHI1
6 ciliary basal body GO:0036064 9.95 SDCCAG8 RPGRIP1L NPHP4 MKS1 CEP290 B9D2
7 centrosome GO:0005813 9.93 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
8 cell-cell junction GO:0005911 9.92 SDCCAG8 RPGRIP1L NPHP4 NPHP1 AHI1
9 ciliary transition zone GO:0035869 9.87 TMEM67 TMEM216 RPGRIP1L NPHP4 MKS1 CEP290
10 photoreceptor connecting cilium GO:0032391 9.83 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 cell projection GO:0042995 9.83 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
12 bicellular tight junction GO:0005923 9.73 RPGRIP1L NPHP4 NPHP1
13 MKS complex GO:0036038 9.73 TMEM67 TMEM216 MKS1 CEP290 B9D2 AHI1
14 non-motile cilium GO:0097730 9.72 NPHP4 GLIS2 AHI1
15 ciliary inversin compartment GO:0097543 9.67 NEK8 INVS ANKS6
16 cilium GO:0005929 9.5 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3

Biological processes related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.85 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 IQCB1
2 G2/M transition of mitotic cell cycle GO:0000086 9.74 SDCCAG8 CEP290 CEP164
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.7 SDCCAG8 CEP290 CEP164
4 kidney development GO:0001822 9.67 RPGRIP1L NPHP3 GLIS2 ANKS6
5 determination of left/right symmetry GO:0007368 9.65 RPGRIP1L NPHP3 NEK8 MKS1 ANKS6
6 cell projection organization GO:0030030 9.65 TMEM67 TMEM216 SDCCAG8 NPHP1 MKS1 IQCB1
7 non-motile cilium assembly GO:1905515 9.63 TMEM216 RPGRIP1L MKS1
8 photoreceptor cell maintenance GO:0045494 9.61 NPHP4 NPHP3 IQCB1
9 hindbrain development GO:0030902 9.56 CEP290 AHI1
10 head development GO:0060322 9.55 RPGRIP1L MKS1
11 photoreceptor cell outer segment organization GO:0035845 9.54 NPHP4 AHI1
12 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP4 NPHP1
13 regulation of smoothened signaling pathway GO:0008589 9.5 TTC21B RPGRIP1L MKS1
14 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
15 maintenance of animal organ identity GO:0048496 9.48 NPHP3 IQCB1
16 visual behavior GO:0007632 9.4 NPHP4 NPHP1
17 ciliary basal body-plasma membrane docking GO:0097711 9.4 TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP1

Molecular functions related to Nephronophthisis 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4

Sources for Nephronophthisis 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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