NPHP14
MCID: NPH071
MIFTS: 45

Nephronophthisis 14 (NPHP14)

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

Aliases & Classifications for Nephronophthisis 14

MalaCards integrated aliases for Nephronophthisis 14:

Name: Nephronophthisis 14 57 12 72 29 6 15 70
Joubert Syndrome 19 57 72 29 13 6 70
Nphp14 57 12 72
Nephronophthisis, Type 14 39
Jbts19 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
four patients from 3 families have been reported (last curated february 2014)
nphp shows autosomal recessive inheritance
jbts shows autosomal dominant inheritance


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0111122
OMIM® 57 614844
OMIM Phenotypic Series 57 PS213300 PS256100
UMLS 70 C3539071 C3553846

Summaries for Nephronophthisis 14

UniProtKB/Swiss-Prot : 72 Joubert syndrome 19: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality.
Nephronophthisis 14: An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis 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 14, also known as joubert syndrome 19, is related to retinal ciliopathy and leber congenital amaurosis 13. An important gene associated with Nephronophthisis 14 is ZNF423 (Zinc Finger Protein 423), 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 situs inversus totalis and retinal degeneration

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.

More information from OMIM: 614844 PS213300 PS256100

Related Diseases for Nephronophthisis 14

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 retinal ciliopathy 10.2 IQCB1 CEP290
2 leber congenital amaurosis 13 10.2 IQCB1 CEP290
3 cone-rod dystrophy 13 10.2 RPGRIP1L NPHP4 IQCB1
4 nephronophthisis 4 10.2 NPHP4 NPHP1
5 leber congenital amaurosis 10 10.2 IQCB1 CEP290
6 leber congenital amaurosis 4 10.1 IQCB1 CEP290
7 tubulointerstitial kidney disease, autosomal dominant, 1 10.1 NPHP4 NPHP1
8 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
9 renal dysplasia, cystic 10.1 NPHP3 CEP290
10 johanson-blizzard syndrome 10.0 RPGRIP1L CEP290 CC2D2A
11 ellis-van creveld syndrome 10.0 RPGRIP1L INVS CEP290
12 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP4 NPHP1
13 caroli disease 10.0 NPHP3 NPHP1 INVS
14 retinal aplasia 10.0 NPHP4 NPHP1 IQCB1 CEP290
15 joubert syndrome 15 10.0 RPGRIP1L NPHP4 NPHP1 CC2D2A
16 arima syndrome 10.0 ZNF423 NPHP4 CEP290 CC2D2A
17 joubert syndrome 24 10.0 TCTN2 RPGRIP1L NPHP1 CEP290
18 end stage renal disease 9.9 NPHP4 NEK8 INVS
19 polycystic liver disease 9.9 TMEM67 NEK8 INVS
20 leber congenital amaurosis 6 9.9 MKS1 CEP290
21 orofaciodigital syndrome 9.8 TMEM67 TCTN1 CEP290
22 cogan syndrome 9.8 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A
23 bardet-biedl syndrome 13 9.8 MKS1 CEP290 CC2D2B
24 bardet-biedl syndrome 11 9.8 RPGRIP1L MKS1 CEP290
25 short-rib thoracic dysplasia 6 with or without polydactyly 9.8 TMEM67 TCTN2 TCTN1
26 bardet-biedl syndrome 8 9.7 MKS1 CEP290
27 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A ANKS6
28 meckel syndrome, type 7 9.7 NPHP3 MKS1 CC2D2A
29 bardet-biedl syndrome 6 9.7 RPGRIP1L MKS1 INVS CEP290
30 joubert syndrome 10 9.6 TMEM67 TCTN2 RPGRIP1L NPHP1 CC2D2A
31 ciliopathy 9.6 TMEM67 RPGRIP1L NPHP4 CEP290 CC2D2A
32 eye disease 9.6 NPHP4 NPHP1 IQCB1 CEP290
33 nephronophthisis 18 9.6 NPHP4 NPHP3 NPHP1 NEK9 IQCB1 INVS
34 apraxia 9.6 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A
35 alstrom syndrome 9.5 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
36 pathologic nystagmus 9.5 TMEM67 MKS1 CEP290
37 polydactyly 9.5 TMEM67 MKS1 CEP290 CC2D2A
38 oligohydramnios 9.5 TMEM67 MKS1 INVS CC2D2A
39 infantile nephronophthisis 9.5 ZNF423 NPHP4 NPHP3 NEK8 INVS ANKS6
40 encephalocele 9.4 TMEM67 MKS1 CEP290 CC2D2A
41 physical disorder 9.4 TMEM67 MKS1 INVS CEP290
42 nephronophthisis 1 9.4 NPHP4 NPHP3 NPHP1 MKS1 INVS CC2D2B
43 joubert syndrome 8 9.4 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290 CC2D2A
44 retinal degeneration 9.4 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 CEP290
45 renal-hepatic-pancreatic dysplasia 9.4 NPHP4 NPHP3 NPHP1 NEK8 IQCB1 INVS
46 nephronophthisis 13 9.3 NPHP4 NPHP3 NPHP1 NEK9 NEK8 IQCB1
47 bardet-biedl syndrome 1 9.3 TMEM67 NPHP4 NPHP1 MKS1 CEP290
48 joubert syndrome 9 9.3 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
49 neural tube defects 9.2 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
50 nephronophthisis 15 9.2 ZNF423 NPHP4 NPHP3 NPHP1 NEK9 NEK8

Graphical network of the top 20 diseases related to Nephronophthisis 14:



Diseases related to Nephronophthisis 14

Symptoms & Phenotypes for Nephronophthisis 14

Human phenotypes related to Nephronophthisis 14:

31
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 retinal degeneration 31 occasional (7.5%) HP:0000546
3 polycystic kidney dysplasia 31 HP:0000113
4 nephronophthisis 31 HP:0000090
5 cerebellar vermis hypoplasia 31 HP:0001320

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephronophthisis
polycystic kidney disease

Head And Neck Eyes:
retinal degeneration (in some patients)
leber congenital amaurosis (in some patients)

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Abdomen:
situs inversus (in 1 family)

Clinical features from OMIM®:

614844 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 14:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 ANKS6 CC2D2A CEP290 INVS MKS1 NEK8
2 cellular MP:0005384 10.27 CC2D2A CEP290 INVS MKS1 NPHP1 NPHP3
3 embryo MP:0005380 10.17 ANKS6 CC2D2A INVS MKS1 NEK9 NPHP3
4 growth/size/body region MP:0005378 10.14 ANKS6 CC2D2A CEP290 INVS MKS1 NEK8
5 mortality/aging MP:0010768 10.13 ANKS6 CC2D2A CEP290 INVS IQCB1 MKS1
6 craniofacial MP:0005382 10.08 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L TCTN2
7 digestive/alimentary MP:0005381 10 CC2D2A INVS MKS1 NEK8 RPGRIP1L TCTN2
8 nervous system MP:0003631 10 CC2D2A CEP290 MKS1 NPHP1 NPHP3 NPHP4
9 limbs/digits/tail MP:0005371 9.85 CC2D2A MKS1 RPGRIP1L TCTN1 TCTN2 TMEM67
10 renal/urinary system MP:0005367 9.85 CC2D2A CEP290 INVS MKS1 NEK8 NPHP1
11 respiratory system MP:0005388 9.56 ANKS6 CC2D2A CEP290 INVS MKS1 NEK8
12 vision/eye MP:0005391 9.23 CC2D2A CEP290 MKS1 NPHP1 NPHP4 RPGRIP1L

Drugs & Therapeutics for Nephronophthisis 14

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 14

Genetic Tests for Nephronophthisis 14

Genetic tests related to Nephronophthisis 14:

# Genetic test Affiliating Genes
1 Joubert Syndrome 19 29
2 Nephronophthisis 14 29 ZNF423

Anatomical Context for Nephronophthisis 14

MalaCards organs/tissues related to Nephronophthisis 14:

40
Kidney, Liver, Eye

Publications for Nephronophthisis 14

Articles related to Nephronophthisis 14:

# Title Authors PMID Year
1
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 57 6
22863007 2012
2
Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function. 61
27727273 2016

Variations for Nephronophthisis 14

ClinVar genetic disease variations for Nephronophthisis 14:

6 (show top 50) (show all 249)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF423 NM_001271620.2(ZNF423):c.1338del (p.Asn447fs) Deletion Pathogenic 37288 rs1596763347 GRCh37: 16:49671545-49671545
GRCh38: 16:49637634-49637634
2 ZNF423 NM_001271620.2(ZNF423):c.3649C>T (p.His1217Tyr) SNV Pathogenic 37289 rs1596988259 GRCh37: 16:49525212-49525212
GRCh38: 16:49491301-49491301
3 ZNF423 NM_001271620.2(ZNF423):c.2351G>A (p.Gly784Glu) SNV Likely pathogenic 689798 rs1596759273 GRCh37: 16:49670532-49670532
GRCh38: 16:49636621-49636621
4 ZNF423 NM_001271620.2(ZNF423):c.1690G>C (p.Ala564Pro) SNV Uncertain significance 650129 rs369619436 GRCh37: 16:49671193-49671193
GRCh38: 16:49637282-49637282
5 ZNF423 NM_001271620.2(ZNF423):c.2465C>T (p.Ser822Leu) SNV Uncertain significance 580310 rs777639594 GRCh37: 16:49670418-49670418
GRCh38: 16:49636507-49636507
6 ZNF423 NM_001271620.2(ZNF423):c.3050A>G (p.Gln1017Arg) SNV Uncertain significance 575833 rs200494811 GRCh37: 16:49669833-49669833
GRCh38: 16:49635922-49635922
7 ZNF423 NM_001271620.2(ZNF423):c.2558C>T (p.Pro853Leu) SNV Uncertain significance 37287 rs200585917 GRCh37: 16:49670325-49670325
GRCh38: 16:49636414-49636414
8 ZNF423 NM_001271620.2(ZNF423):c.865G>A (p.Asp289Asn) SNV Uncertain significance 473053 rs1045777723 GRCh37: 16:49672018-49672018
GRCh38: 16:49638107-49638107
9 ZNF423 NM_001271620.2(ZNF423):c.1291G>A (p.Asp431Asn) SNV Uncertain significance 473055 rs138661785 GRCh37: 16:49671592-49671592
GRCh38: 16:49637681-49637681
10 ZNF423 NM_001271620.2(ZNF423):c.2040G>A (p.Ala680=) SNV Uncertain significance 473058 rs186112147 GRCh37: 16:49670843-49670843
GRCh38: 16:49636932-49636932
11 ZNF423 NM_001271620.2(ZNF423):c.2404C>G (p.Leu802Val) SNV Uncertain significance 540270 rs774348975 GRCh37: 16:49670479-49670479
GRCh38: 16:49636568-49636568
12 ZNF423 NM_001271620.2(ZNF423):c.167C>T (p.Thr56Met) SNV Uncertain significance 540271 rs376833288 GRCh37: 16:49672716-49672716
GRCh38: 16:49638805-49638805
13 ZNF423 NM_001271620.2(ZNF423):c.3263C>T (p.Pro1088Leu) SNV Uncertain significance 426244 rs756742718 GRCh37: 16:49669620-49669620
GRCh38: 16:49635709-49635709
14 ZNF423 NM_001271620.2(ZNF423):c.964T>C (p.Ser322Pro) SNV Uncertain significance 197823 rs142835239 GRCh37: 16:49671919-49671919
GRCh38: 16:49638008-49638008
15 ZNF423 NM_001271620.2(ZNF423):c.113C>G (p.Pro38Arg) SNV Uncertain significance 567789 rs113358702 GRCh37: 16:49672770-49672770
GRCh38: 16:49638859-49638859
16 ZNF423 NM_001271620.2(ZNF423):c.892G>A (p.Asp298Asn) SNV Uncertain significance 569915 rs760969654 GRCh37: 16:49671991-49671991
GRCh38: 16:49638080-49638080
17 ZNF423 NM_001271620.2(ZNF423):c.3645+6T>A SNV Uncertain significance 640556 rs1340098894 GRCh37: 16:49557529-49557529
GRCh38: 16:49523618-49523618
18 ZNF423 NM_001271620.2(ZNF423):c.2780C>T (p.Thr927Met) SNV Uncertain significance 641503 rs143393771 GRCh37: 16:49670103-49670103
GRCh38: 16:49636192-49636192
19 ZNF423 NM_001271620.2(ZNF423):c.601G>T (p.Asp201Tyr) SNV Uncertain significance 641665 rs569889555 GRCh37: 16:49672282-49672282
GRCh38: 16:49638371-49638371
20 ZNF423 NM_001271620.2(ZNF423):c.1070G>A (p.Arg357Gln) SNV Uncertain significance 644962 rs150550744 GRCh37: 16:49671813-49671813
GRCh38: 16:49637902-49637902
21 ZNF423 NM_001271620.2(ZNF423):c.2071C>T (p.Arg691Cys) SNV Uncertain significance 645949 rs757246232 GRCh37: 16:49670812-49670812
GRCh38: 16:49636901-49636901
22 ZNF423 NM_001271620.2(ZNF423):c.1208T>C (p.Leu403Pro) SNV Uncertain significance 651985 rs1596763863 GRCh37: 16:49671675-49671675
GRCh38: 16:49637764-49637764
23 ZNF423 NM_001271620.2(ZNF423):c.2363T>C (p.Met788Thr) SNV Uncertain significance 653837 rs1596759188 GRCh37: 16:49670520-49670520
GRCh38: 16:49636609-49636609
24 ZNF423 NM_001271620.2(ZNF423):c.-131C>G SNV Uncertain significance 653839 rs1458377167 GRCh37: 16:49823424-49823424
GRCh38: 16:49789513-49789513
25 ZNF423 NM_001271620.2(ZNF423):c.508G>A (p.Gly170Ser) SNV Uncertain significance 654978 rs780153015 GRCh37: 16:49672375-49672375
GRCh38: 16:49638464-49638464
26 ZNF423 NM_001271620.2(ZNF423):c.3598G>A (p.Asp1200Asn) SNV Uncertain significance 657679 rs199688997 GRCh37: 16:49557582-49557582
GRCh38: 16:49523671-49523671
27 ZNF423 NM_001271620.2(ZNF423):c.-132G>A SNV Uncertain significance 661009 rs777866403 GRCh37: 16:49823425-49823425
GRCh38: 16:49789514-49789514
28 ZNF423 NM_001271620.2(ZNF423):c.3005A>C (p.Lys1002Thr) SNV Uncertain significance 665847 rs1197947777 GRCh37: 16:49669878-49669878
GRCh38: 16:49635967-49635967
29 ZNF423 NM_001271620.2(ZNF423):c.3070G>A (p.Val1024Ile) SNV Uncertain significance 800952 rs759221881 GRCh37: 16:49669813-49669813
GRCh38: 16:49635902-49635902
30 ZNF423 NM_001271620.2(ZNF423):c.250G>A (p.Asp84Asn) SNV Uncertain significance 834377 GRCh37: 16:49672633-49672633
GRCh38: 16:49638722-49638722
31 ZNF423 NM_001271620.2(ZNF423):c.-149C>T SNV Uncertain significance 835421 GRCh37: 16:49823442-49823442
GRCh38: 16:49789531-49789531
32 ZNF423 NM_001271620.2(ZNF423):c.2461G>A (p.Ala821Thr) SNV Uncertain significance 835636 GRCh37: 16:49670422-49670422
GRCh38: 16:49636511-49636511
33 ZNF423 NM_001271620.2(ZNF423):c.2672C>T (p.Thr891Met) SNV Uncertain significance 836139 GRCh37: 16:49670211-49670211
GRCh38: 16:49636300-49636300
34 ZNF423 NM_001271620.2(ZNF423):c.1517C>T (p.Pro506Leu) SNV Uncertain significance 836313 GRCh37: 16:49671366-49671366
GRCh38: 16:49637455-49637455
35 ZNF423 NM_001271620.2(ZNF423):c.1198G>A (p.Val400Ile) SNV Uncertain significance 837096 GRCh37: 16:49671685-49671685
GRCh38: 16:49637774-49637774
36 ZNF423 NM_001271620.2(ZNF423):c.928G>A (p.Ala310Thr) SNV Uncertain significance 197825 rs199760788 GRCh37: 16:49671955-49671955
GRCh38: 16:49638044-49638044
37 ZNF423 NM_001271620.2(ZNF423):c.172A>G (p.Met58Val) SNV Uncertain significance 838330 GRCh37: 16:49672711-49672711
GRCh38: 16:49638800-49638800
38 ZNF423 NM_001271620.2(ZNF423):c.1420G>A (p.Glu474Lys) SNV Uncertain significance 839237 GRCh37: 16:49671463-49671463
GRCh38: 16:49637552-49637552
39 ZNF423 NM_001271620.2(ZNF423):c.1684G>A (p.Ala562Thr) SNV Uncertain significance 840432 GRCh37: 16:49671199-49671199
GRCh38: 16:49637288-49637288
40 ZNF423 NM_001271620.2(ZNF423):c.2479G>A (p.Gly827Ser) SNV Uncertain significance 841969 GRCh37: 16:49670404-49670404
GRCh38: 16:49636493-49636493
41 ZNF423 NM_001271620.2(ZNF423):c.3280C>T (p.Arg1094Trp) SNV Uncertain significance 842483 GRCh37: 16:49669603-49669603
GRCh38: 16:49635692-49635692
42 ZNF423 NM_001271620.2(ZNF423):c.3142G>C (p.Ala1048Pro) SNV Uncertain significance 842903 GRCh37: 16:49669741-49669741
GRCh38: 16:49635830-49635830
43 ZNF423 NM_001271620.2(ZNF423):c.158C>T (p.Ala53Val) SNV Uncertain significance 843093 GRCh37: 16:49672725-49672725
GRCh38: 16:49638814-49638814
44 ZNF423 NM_001271620.2(ZNF423):c.1013G>A (p.Arg338Gln) SNV Uncertain significance 843622 GRCh37: 16:49671870-49671870
GRCh38: 16:49637959-49637959
45 ZNF423 NM_001271620.2(ZNF423):c.204C>T (p.Gly68=) SNV Uncertain significance 845480 GRCh37: 16:49672679-49672679
GRCh38: 16:49638768-49638768
46 ZNF423 NM_001271620.2(ZNF423):c.775G>A (p.Ala259Thr) SNV Uncertain significance 845605 GRCh37: 16:49672108-49672108
GRCh38: 16:49638197-49638197
47 ZNF423 NM_001271620.2(ZNF423):c.1798C>T (p.Arg600Trp) SNV Uncertain significance 849068 GRCh37: 16:49671085-49671085
GRCh38: 16:49637174-49637174
48 ZNF423 NM_001271620.2(ZNF423):c.1670G>A (p.Arg557Gln) SNV Uncertain significance 849220 GRCh37: 16:49671213-49671213
GRCh38: 16:49637302-49637302
49 ZNF423 NM_001271620.2(ZNF423):c.1690G>A (p.Ala564Thr) SNV Uncertain significance 849244 GRCh37: 16:49671193-49671193
GRCh38: 16:49637282-49637282
50 ZNF423 NM_001271620.2(ZNF423):c.1120G>A (p.Ala374Thr) SNV Uncertain significance 850212 GRCh37: 16:49671763-49671763
GRCh38: 16:49637852-49637852

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 14:

72
# Symbol AA change Variation ID SNP ID
1 ZNF423 p.Pro913Leu VAR_068501 rs200585917
2 ZNF423 p.His1277Tyr VAR_068502

Expression for Nephronophthisis 14

Search GEO for disease gene expression data for Nephronophthisis 14.

Pathways for Nephronophthisis 14

GO Terms for Nephronophthisis 14

Cellular components related to Nephronophthisis 14 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.32 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
2 cytoskeleton GO:0005856 10.1 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
3 cell projection GO:0042995 10.07 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP3
4 centrosome GO:0005813 10.01 TMEM67 RPGRIP1L NPHP4 NEK9 NEK8 MKS1
5 microtubule organizing center GO:0005815 9.93 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1 CEP290
6 ciliary basal body GO:0036064 9.8 RPGRIP1L NPHP4 MKS1 CEP290
7 photoreceptor connecting cilium GO:0032391 9.77 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
8 centriole GO:0005814 9.7 MKS1 IQCB1 CEP290
9 bicellular tight junction GO:0005923 9.69 RPGRIP1L NPHP4 NPHP1
10 MKS complex GO:0036038 9.63 TMEM67 TCTN2 TCTN1 MKS1 CEP290 CC2D2A
11 ciliary inversin compartment GO:0097543 9.61 NEK8 INVS ANKS6
12 ciliary transition zone GO:0035869 9.56 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 MKS1
13 cilium GO:0005929 9.4 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK8

Biological processes related to Nephronophthisis 14 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 TMEM67 TCTN2 TCTN1 NPHP1 MKS1 IQCB1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.75 NPHP4 NPHP3 INVS
3 determination of left/right symmetry GO:0007368 9.73 RPGRIP1L NPHP3 NEK8 MKS1 CC2D2A ANKS6
4 kidney development GO:0001822 9.71 RPGRIP1L NPHP3 CC2D2A ANKS6
5 non-motile cilium assembly GO:1905515 9.65 RPGRIP1L MKS1 CC2D2A
6 ciliary basal body-plasma membrane docking GO:0097711 9.65 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
7 photoreceptor cell maintenance GO:0045494 9.63 NPHP4 NPHP3 IQCB1
8 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
9 telencephalon development GO:0021537 9.57 TCTN1 RPGRIP1L
10 motile cilium assembly GO:0044458 9.56 MKS1 CC2D2A
11 head development GO:0060322 9.55 RPGRIP1L MKS1
12 embryonic brain development GO:1990403 9.54 MKS1 CC2D2A
13 regulation of smoothened signaling pathway GO:0008589 9.54 TCTN1 RPGRIP1L MKS1
14 positive regulation of bicellular tight junction assembly GO:1903348 9.52 NPHP4 NPHP1
15 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.51 NPHP3 MKS1
16 maintenance of animal organ identity GO:0048496 9.49 NPHP3 IQCB1
17 visual behavior GO:0007632 9.43 NPHP4 NPHP1
18 cilium assembly GO:0060271 9.32 ZNF423 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP3

Sources for Nephronophthisis 14

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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