NPHP7
MCID: NPH033
MIFTS: 42

Nephronophthisis 7 (NPHP7)

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

Aliases & Classifications for Nephronophthisis 7

MalaCards integrated aliases for Nephronophthisis 7:

Name: Nephronophthisis 7 57 12 72 29 13 6 15 70
Nphp7 57 12 72
Nephronophthisis, Type 7 39

Characteristics:

HPO:

31
nephronophthisis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111116
OMIM® 57 611498
OMIM Phenotypic Series 57 PS256100
MeSH 44 D052177
MedGen 41 C1969092
SNOMED-CT via HPO 68 204958008 258211005 433146000
UMLS 70 C1969092

Summaries for Nephronophthisis 7

UniProtKB/Swiss-Prot : 72 Nephronophthisis 7: An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. 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.

MalaCards based summary : Nephronophthisis 7, also known as nphp7, is related to end stage renal disease and bardet-biedl syndrome 11. An important gene associated with Nephronophthisis 7 is GLIS2 (GLIS Family Zinc Finger 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include liver, kidney 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 GLIS2 gene on chromosome 16p13.

More information from OMIM: 611498 PS256100

Related Diseases for Nephronophthisis 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 end stage renal disease 29.8 NPHP4 NEK8 INVS
2 bardet-biedl syndrome 11 29.3 SDCCAG8 RPGRIP1L MKS1 CEP290
3 bardet-biedl syndrome 1 28.7 TMEM67 SDCCAG8 NPHP4 NPHP1 MKS1 CEP290
4 ciliopathy 28.6 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 CEP290
5 cystic kidney disease 27.7 TMEM67 NPHP4 NPHP3 NPHP1 NEK9 NEK8
6 kidney disease 27.5 TTC21B TMEM67 NPHP4 NPHP3 NPHP1 NEK8
7 nephronophthisis 26.3 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
8 bardet-biedl syndrome 26.1 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
9 retinitis pigmentosa 25.7 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
10 retinal ciliopathy 10.2 IQCB1 CEP290
11 leber congenital amaurosis 13 10.2 IQCB1 CEP290
12 leber congenital amaurosis 10 10.2 IQCB1 CEP290
13 cone-rod dystrophy 13 10.2 RPGRIP1L NPHP4 IQCB1
14 renal dysplasia, cystic 10.2 NPHP3 CEP290
15 simpson-golabi-behmel syndrome, type 2 10.1 SDCCAG8 CEP290
16 leber congenital amaurosis 4 10.1 IQCB1 CEP290
17 polycystic liver disease 10.1 TMEM67 NEK8 INVS
18 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
19 nephronophthisis 4 10.1 NPHP4 NPHP1
20 tubulointerstitial kidney disease, autosomal dominant, 1 10.0 NPHP4 NPHP1
21 caroli disease 10.0 NPHP3 NPHP1 INVS
22 leber congenital amaurosis 6 10.0 MKS1 CEP290
23 bardet-biedl syndrome 13 10.0 MKS1 CEP290
24 bardet-biedl syndrome 16 10.0 SDCCAG8 MKS1
25 neuroretinitis 9.9
26 hydrocephalus 9.9
27 retinitis 9.9
28 situs inversus 9.9
29 muscular dystrophy 9.9
30 acrocallosal syndrome 9.9 RPGRIP1L NPHP1 AHI1
31 oculomotor apraxia 9.8 NPHP1 AHI1
32 polycystic liver disease 1 with or without kidney cysts 9.8 NPHP4 NPHP1
33 ellis-van creveld syndrome 9.8 TTC21B RPGRIP1L INVS CEP290
34 pathologic nystagmus 9.8 TMEM67 MKS1 CEP290
35 bardet-biedl syndrome 8 9.8 MKS1 CEP290
36 arima syndrome 9.8 NPHP4 CEP290 CC2D2A
37 usher syndrome 9.8 RPGRIP1L IQCB1 CEP290 AHI1
38 johanson-blizzard syndrome 9.8 RPGRIP1L CEP290 CC2D2A
39 infantile nephronophthisis 9.7 TTC21B NPHP4 NPHP3 NEK8 INVS
40 joubert syndrome 24 9.7 RPGRIP1L NPHP1 CEP290 AHI1
41 physical disorder 9.7 TMEM67 MKS1 INVS CEP290
42 alstrom syndrome 9.7 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
43 meckel syndrome, type 7 9.6 NPHP3 MKS1 CC2D2A
44 joubert syndrome 15 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
45 bardet-biedl syndrome 6 9.6 SDCCAG8 RPGRIP1L MKS1 INVS CEP290
46 congenital hepatic fibrosis 9.5 TMEM67 RPGRIP1L CC2D2A AHI1
47 nephronophthisis 18 9.5 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 IQCB1
48 polycystic kidney disease 2 with or without polycystic liver disease 9.5 TMEM67 NPHP4 NEK9 NEK8 MKS1 INVS
49 retinal aplasia 9.5 TTC21B SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
50 oligohydramnios 9.4 TMEM67 MKS1 INVS CC2D2A

Graphical network of the top 20 diseases related to Nephronophthisis 7:



Diseases related to Nephronophthisis 7

Symptoms & Phenotypes for Nephronophthisis 7

Human phenotypes related to Nephronophthisis 7:

31
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 31 HP:0000090
2 stage 5 chronic kidney disease 31 HP:0003774
3 renal tubular atrophy 31 HP:0000092

Clinical features from OMIM®:

611498 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 7:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 AHI1 CC2D2A CEP290 GLIS2 INVS MKS1
2 cardiovascular system MP:0005385 10.21 CC2D2A CEP290 INVS MKS1 NEK8 NEK9
3 growth/size/body region MP:0005378 10.14 AHI1 CC2D2A CEP290 INVS MKS1 NEK8
4 homeostasis/metabolism MP:0005376 10.11 AHI1 CEP290 GLIS2 INVS MKS1 NEK8
5 mortality/aging MP:0010768 10.1 AHI1 CC2D2A CEP290 GLIS2 INVS IQCB1
6 craniofacial MP:0005382 10.08 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8
7 embryo MP:0005380 10.03 CC2D2A INVS MKS1 NEK9 NPHP3 RPGRIP1L
8 digestive/alimentary MP:0005381 10 CC2D2A INVS MKS1 NEK8 RPGRIP1L SDCCAG8
9 nervous system MP:0003631 9.9 AHI1 CC2D2A CEP290 MKS1 NPHP1 NPHP3
10 limbs/digits/tail MP:0005371 9.8 CC2D2A MKS1 RPGRIP1L SDCCAG8 TMEM67 TTC21B
11 renal/urinary system MP:0005367 9.8 AHI1 CC2D2A CEP290 GLIS2 INVS MKS1
12 vision/eye MP:0005391 9.23 AHI1 CC2D2A CEP290 MKS1 NPHP1 NPHP4

Drugs & Therapeutics for Nephronophthisis 7

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 7

Genetic Tests for Nephronophthisis 7

Genetic tests related to Nephronophthisis 7:

# Genetic test Affiliating Genes
1 Nephronophthisis 7 29 GLIS2

Anatomical Context for Nephronophthisis 7

MalaCards organs/tissues related to Nephronophthisis 7:

40
Liver, Kidney, Eye

Publications for Nephronophthisis 7

Articles related to Nephronophthisis 7:

# Title Authors PMID Year
1
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61 57 6
23559409 2013
2
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. 57 6
17618285 2007
3
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. 61
27181777 2016
4
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 61
26374130 2016
5
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. 61
26083374 2015
6
Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7. 61
24500717 2014
7
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. 61
24069149 2013

Variations for Nephronophthisis 7

ClinVar genetic disease variations for Nephronophthisis 7:

6 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLIS2 GLIS2, IVS5DS, G-T, +1 SNV Pathogenic 2213 GRCh37:
GRCh38:
2 GLIS2 NM_032575.2(GLIS2):c.523T>C (p.Cys175Arg) SNV Pathogenic 127160 rs587777353 GRCh37: 16:4385061-4385061
GRCh38: 16:4335060-4335060
3 GLIS2 NM_032575.2(GLIS2):c.*1791T>C SNV Uncertain significance 319262 rs886052003 GRCh37: 16:4389316-4389316
GRCh38: 16:4339315-4339315
4 GLIS2 NM_032575.2(GLIS2):c.127G>A (p.Val43Met) SNV Uncertain significance 319208 rs886051989 GRCh37: 16:4382408-4382408
GRCh38: 16:4332407-4332407
5 GLIS2 NM_032575.2(GLIS2):c.*1988A>G SNV Uncertain significance 319265 rs139152543 GRCh37: 16:4389513-4389513
GRCh38: 16:4339512-4339512
6 GLIS2 NM_032575.2(GLIS2):c.291G>A (p.Ser97=) SNV Uncertain significance 319210 rs529581775 GRCh37: 16:4383466-4383466
GRCh38: 16:4333465-4333465
7 GLIS2 NM_032575.2(GLIS2):c.651C>T (p.Asn217=) SNV Uncertain significance 319213 rs140609747 GRCh37: 16:4385189-4385189
GRCh38: 16:4335188-4335188
8 GLIS2 NM_032575.2(GLIS2):c.*632G>A SNV Uncertain significance 319242 rs886051994 GRCh37: 16:4388157-4388157
GRCh38: 16:4338156-4338156
9 GLIS2 NM_032575.2(GLIS2):c.210G>A (p.Glu70=) SNV Uncertain significance 319209 rs886051990 GRCh37: 16:4383385-4383385
GRCh38: 16:4333384-4333384
10 GLIS2 NM_032575.2(GLIS2):c.*1700G>A SNV Uncertain significance 319260 rs886052002 GRCh37: 16:4389225-4389225
GRCh38: 16:4339224-4339224
11 GLIS2 NM_032575.2(GLIS2):c.1355C>A (p.Pro452His) SNV Uncertain significance 319221 rs776535774 GRCh37: 16:4387305-4387305
GRCh38: 16:4337304-4337304
12 GLIS2 NM_032575.2(GLIS2):c.*1826C>T SNV Uncertain significance 319263 rs757541 GRCh37: 16:4389351-4389351
GRCh38: 16:4339350-4339350
13 GLIS2 NM_032575.2(GLIS2):c.1326C>T (p.Ala442=) SNV Uncertain significance 319218 rs767819594 GRCh37: 16:4387276-4387276
GRCh38: 16:4337275-4337275
14 GLIS2 NM_032575.2(GLIS2):c.*437A>C SNV Uncertain significance 319237 rs533863589 GRCh37: 16:4387962-4387962
GRCh38: 16:4337961-4337961
15 GLIS2 NM_032575.2(GLIS2):c.*1465G>A SNV Uncertain significance 319257 rs762692214 GRCh37: 16:4388990-4388990
GRCh38: 16:4338989-4338989
16 GLIS2 NM_032575.2(GLIS2):c.*611G>A SNV Uncertain significance 319240 rs886051993 GRCh37: 16:4388136-4388136
GRCh38: 16:4338135-4338135
17 GLIS2 NM_032575.2(GLIS2):c.*856C>T SNV Uncertain significance 319246 rs886051996 GRCh37: 16:4388381-4388381
GRCh38: 16:4338380-4338380
18 GLIS2 NM_032575.2(GLIS2):c.*12G>A SNV Uncertain significance 319228 rs201860422 GRCh37: 16:4387537-4387537
GRCh38: 16:4337536-4337536
19 GLIS2 NM_032575.2(GLIS2):c.*1082G>A SNV Uncertain significance 319251 rs886051999 GRCh37: 16:4388607-4388607
GRCh38: 16:4338606-4338606
20 GLIS2 NM_032575.2(GLIS2):c.344C>T (p.Ser115Leu) SNV Uncertain significance 319211 rs771450245 GRCh37: 16:4383519-4383519
GRCh38: 16:4333518-4333518
21 GLIS2 NM_032575.2(GLIS2):c.*916G>A SNV Uncertain significance 319249 rs72766567 GRCh37: 16:4388441-4388441
GRCh38: 16:4338440-4338440
22 GLIS2 NM_032575.2(GLIS2):c.*712C>G SNV Uncertain significance 319243 rs886051995 GRCh37: 16:4388237-4388237
GRCh38: 16:4338236-4338236
23 GLIS2 NM_032575.2(GLIS2):c.*881C>T SNV Uncertain significance 319247 rs540618522 GRCh37: 16:4388406-4388406
GRCh38: 16:4338405-4338405
24 GLIS2 NM_032575.2(GLIS2):c.*43G>A SNV Uncertain significance 319230 rs184772323 GRCh37: 16:4387568-4387568
GRCh38: 16:4337567-4337567
25 GLIS2 NM_032575.2(GLIS2):c.505G>A (p.Val169Met) SNV Uncertain significance 319212 rs144844035 GRCh37: 16:4384961-4384961
GRCh38: 16:4334960-4334960
26 GLIS2 NM_032575.2(GLIS2):c.*1046G>C SNV Uncertain significance 319250 rs886051998 GRCh37: 16:4388571-4388571
GRCh38: 16:4338570-4338570
27 GLIS2 NM_032575.2(GLIS2):c.747C>T (p.Asn249=) SNV Uncertain significance 319214 rs763296256 GRCh37: 16:4385366-4385366
GRCh38: 16:4335365-4335365
28 GLIS2 NM_032575.2(GLIS2):c.*1161G>A SNV Uncertain significance 319253 rs78428657 GRCh37: 16:4388686-4388686
GRCh38: 16:4338685-4338685
29 GLIS2 NM_032575.2(GLIS2):c.*2C>T SNV Uncertain significance 319227 rs144489623 GRCh37: 16:4387527-4387527
GRCh38: 16:4337526-4337526
30 GLIS2 NM_032575.2(GLIS2):c.*551C>G SNV Uncertain significance 319239 rs886051992 GRCh37: 16:4388076-4388076
GRCh38: 16:4338075-4338075
31 GLIS2 NM_032575.2(GLIS2):c.*762C>T SNV Uncertain significance 319244 rs573926229 GRCh37: 16:4388287-4388287
GRCh38: 16:4338286-4338286
32 GLIS2 NM_032575.2(GLIS2):c.*1830C>T SNV Uncertain significance 319264 rs578236633 GRCh37: 16:4389355-4389355
GRCh38: 16:4339354-4339354
33 GLIS2 NM_032575.2(GLIS2):c.1335G>C (p.Glu445Asp) SNV Uncertain significance 319219 rs761985295 GRCh37: 16:4387285-4387285
GRCh38: 16:4337284-4337284
34 GLIS2 NM_032575.2(GLIS2):c.*525C>T SNV Uncertain significance 319238 rs886051991 GRCh37: 16:4388050-4388050
GRCh38: 16:4338049-4338049
35 GLIS2 NM_032575.2(GLIS2):c.1403C>T (p.Thr468Met) SNV Uncertain significance 319222 rs138285254 GRCh37: 16:4387353-4387353
GRCh38: 16:4337352-4337352
36 GLIS2 NM_032575.2(GLIS2):c.*1761C>T SNV Uncertain significance 319261 rs370625022 GRCh37: 16:4389286-4389286
GRCh38: 16:4339285-4339285
37 GLIS2 NM_032575.2(GLIS2):c.1128C>T (p.Pro376=) SNV Uncertain significance 319217 rs750906253 GRCh37: 16:4387078-4387078
GRCh38: 16:4337077-4337077
38 GLIS2 NM_032575.2(GLIS2):c.*1628C>G SNV Uncertain significance 319259 rs886052001 GRCh37: 16:4389153-4389153
GRCh38: 16:4339152-4339152
39 GLIS2 NM_032575.2(GLIS2):c.1105G>A (p.Gly369Ser) SNV Uncertain significance 216802 rs200720013 GRCh37: 16:4387055-4387055
GRCh38: 16:4337054-4337054
40 GLIS2 NM_032575.2(GLIS2):c.1180G>A (p.Gly394Ser) SNV Uncertain significance 220046 rs775114398 GRCh37: 16:4387130-4387130
GRCh38: 16:4337129-4337129
41 GLIS2 NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) SNV Uncertain significance 884520 GRCh37: 16:4387127-4387127
GRCh38: 16:4337126-4337126
42 GLIS2 NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) SNV Uncertain significance 884521 GRCh37: 16:4387206-4387206
GRCh38: 16:4337205-4337205
43 GLIS2 NM_032575.3(GLIS2):c.*663C>G SNV Uncertain significance 884587 GRCh37: 16:4388188-4388188
GRCh38: 16:4338187-4338187
44 GLIS2 NM_032575.3(GLIS2):c.*757G>A SNV Uncertain significance 884588 GRCh37: 16:4388282-4388282
GRCh38: 16:4338281-4338281
45 GLIS2 NM_032575.3(GLIS2):c.*1911G>C SNV Uncertain significance 884645 GRCh37: 16:4389436-4389436
GRCh38: 16:4339435-4339435
46 GLIS2 NM_032575.3(GLIS2):c.*1931C>G SNV Uncertain significance 884646 GRCh37: 16:4389456-4389456
GRCh38: 16:4339455-4339455
47 GLIS2 NM_032575.3(GLIS2):c.*1998C>G SNV Uncertain significance 884647 GRCh37: 16:4389523-4389523
GRCh38: 16:4339522-4339522
48 GLIS2 NM_032575.3(GLIS2):c.*2021C>T SNV Uncertain significance 884648 GRCh37: 16:4389546-4389546
GRCh38: 16:4339545-4339545
49 GLIS2 NM_032575.3(GLIS2):c.*2058G>A SNV Uncertain significance 884649 GRCh37: 16:4389583-4389583
GRCh38: 16:4339582-4339582
50 GLIS2 NM_032575.2(GLIS2):c.239A>T (p.Asp80Val) SNV Uncertain significance 195389 rs144447862 GRCh37: 16:4383414-4383414
GRCh38: 16:4333413-4333413

Expression for Nephronophthisis 7

Search GEO for disease gene expression data for Nephronophthisis 7.

Pathways for Nephronophthisis 7

GO Terms for Nephronophthisis 7

Cellular components related to Nephronophthisis 7 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.37 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
2 cytosol GO:0005829 10.29 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK9
3 centrosome GO:0005813 10.02 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
4 microtubule organizing center GO:0005815 10 SDCCAG8 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1
5 cell junction GO:0030054 9.97 SDCCAG8 RPGRIP1L NPHP4 NPHP1 AHI1
6 cytoskeleton GO:0005856 9.97 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
7 cell-cell junction GO:0005911 9.91 SDCCAG8 RPGRIP1L NPHP4 NPHP1 AHI1
8 ciliary basal body GO:0036064 9.91 SDCCAG8 RPGRIP1L NPHP4 MKS1 CEP290 AHI1
9 centriole GO:0005814 9.88 SDCCAG8 MKS1 IQCB1 CEP290 AHI1
10 photoreceptor connecting cilium GO:0032391 9.8 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 MKS complex GO:0036038 9.77 TMEM67 MKS1 CEP290 CC2D2A AHI1
12 cell projection GO:0042995 9.77 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
13 bicellular tight junction GO:0005923 9.73 RPGRIP1L NPHP4 NPHP1
14 ciliary transition zone GO:0035869 9.73 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290 CC2D2A
15 non-motile cilium GO:0097730 9.7 NPHP4 GLIS2 AHI1
16 ciliary inversin compartment GO:0097543 9.54 NEK8 INVS
17 cilium GO:0005929 9.44 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1

Biological processes related to Nephronophthisis 7 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.76 NPHP4 NPHP3 INVS
2 cilium assembly GO:0060271 9.76 TMEM67 RPGRIP1L NPHP3 MKS1 IQCB1 CEP290
3 kidney development GO:0001822 9.67 RPGRIP1L NPHP3 GLIS2 CC2D2A
4 determination of left/right symmetry GO:0007368 9.65 RPGRIP1L NPHP3 NEK8 MKS1 CC2D2A
5 non-motile cilium assembly GO:1905515 9.63 RPGRIP1L MKS1 CC2D2A
6 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
7 photoreceptor cell maintenance GO:0045494 9.58 NPHP4 NPHP3 IQCB1
8 hindbrain development GO:0030902 9.57 CEP290 AHI1
9 head development GO:0060322 9.56 RPGRIP1L MKS1
10 cell projection organization GO:0030030 9.56 TMEM67 SDCCAG8 NPHP1 MKS1 IQCB1 CEP290
11 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
12 photoreceptor cell outer segment organization GO:0035845 9.54 NPHP4 AHI1
13 protein localization to ciliary transition zone GO:1904491 9.52 NPHP4 CC2D2A
14 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP4 NPHP1
15 regulation of smoothened signaling pathway GO:0008589 9.5 TTC21B RPGRIP1L MKS1
16 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
17 maintenance of animal organ identity GO:0048496 9.48 NPHP3 IQCB1
18 visual behavior GO:0007632 9.43 NPHP4 NPHP1
19 ciliary basal body-plasma membrane docking GO:0097711 9.32 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1

Sources for Nephronophthisis 7

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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