NPHP16
MCID: NPH068
MIFTS: 44

Nephronophthisis 16 (NPHP16)

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

Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Name: Nephronophthisis 16 57 12 72 29 6 15 70
Nphp16 57 12 72
Nephronophthisis, Type 16 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
some patients show onset in childhood
progressive renal disorder


HPO:

31
nephronophthisis 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 16

UniProtKB/Swiss-Prot : 72 Nephronophthisis 16: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.

MalaCards based summary : Nephronophthisis 16, also known as nphp16, is related to right atrial isomerism and retinal ciliopathy. An important gene associated with Nephronophthisis 16 is ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6), 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 hypertrophic cardiomyopathy and patent ductus arteriosus

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the ANKS6 gene on chromosome 9q22.

More information from OMIM: 615382 PS256100

Related Diseases for Nephronophthisis 16

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 right atrial isomerism 10.1 NEK8 INVS ANKS3
2 retinal ciliopathy 10.1 IQCB1 CEP290
3 nephronophthisis 4 10.0 NPHP4 NPHP1
4 leber congenital amaurosis 13 10.0 IQCB1 CEP290
5 leber congenital amaurosis 10 10.0 IQCB1 CEP290
6 simpson-golabi-behmel syndrome, type 2 10.0 SDCCAG8 CEP290
7 tubulointerstitial kidney disease, autosomal dominant, 1 10.0 NPHP4 NPHP1
8 leber congenital amaurosis 4 10.0 IQCB1 CEP290
9 nephronophthisis 1 9.9 NPHP4 NPHP3 NPHP1 INVS
10 cone-rod dystrophy 13 9.9 RPGRIP1L NPHP4 IQCB1
11 orofaciodigital syndrome i 9.9 CEP83 CEP290
12 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP4 NPHP1
13 end stage renal disease 9.9 NPHP4 NEK8 INVS
14 polycystic liver disease 9.9 TMEM67 NEK8 INVS
15 joubert syndrome 15 9.9 RPGRIP1L NPHP4 NPHP1
16 leber congenital amaurosis 3 9.9 NPHP4 IQCB1 CEP290
17 caroli disease 9.8 WDR19 NPHP3 NPHP1 INVS
18 renal dysplasia, cystic 9.8 NPHP3 CEP290 BICC1
19 joubert syndrome 24 9.8 RPGRIP1L NPHP1 CEP290
20 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L ANKS6
21 bardet-biedl syndrome 11 9.7 SDCCAG8 RPGRIP1L CEP290
22 encephalocele 9.7 TMEM67 CEP290
23 meckel syndrome, type 8 9.7 TMEM67 RPGRIP1L NPHP3
24 joubert syndrome 10 9.7 TMEM67 RPGRIP1L NPHP1
25 infantile nephronophthisis 9.6 NPHP4 NPHP3 NEK8 INVS CEP83 ANKS6
26 bardet-biedl syndrome 6 9.6 SDCCAG8 RPGRIP1L INVS CEP290
27 orofaciodigital syndrome 9.6 TMEM67 CEP83 CEP290
28 johanson-blizzard syndrome 9.6 RPGRIP1L CEP290
29 physical disorder 9.6 TMEM67 INVS CEP290
30 cogan syndrome 9.6 RPGRIP1L NPHP4 NPHP1 CEP290
31 retinal aplasia 9.6 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
32 apraxia 9.6 TMEM67 NPHP1 CEP290
33 ellis-van creveld syndrome 9.5 WDR19 RPGRIP1L INVS CEP290
34 joubert syndrome 9 9.5 TMEM67 RPGRIP1L CEP290
35 alstrom syndrome 9.4 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
36 joubert syndrome 6 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
37 joubert syndrome 13 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
38 joubert syndrome 7 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
39 joubert syndrome 2 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
40 polydactyly 9.3 WDR19 TMEM67 SDCCAG8 CEP290
41 orofaciodigital syndrome vi 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
42 polycystic kidney disease 9.3 TMEM67 NPHP3 NEK8 INVS CEP290 ANKS6
43 nephronophthisis 18 9.3 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 IQCB1
44 polycystic kidney disease 2 with or without polycystic liver disease 9.2 TMEM67 NPHP4 NEK9 NEK8 INVS BICC1
45 joubert syndrome 5 9.2 TMEM67 RPGRIP1L NPHP1 IQCB1 CEP290
46 bardet-biedl syndrome 1 9.2 TMEM67 SDCCAG8 NPHP4 NPHP1 CEP290
47 bardet-biedl syndrome 14 9.2 TMEM67 SDCCAG8 RPGRIP1L IQCB1 CEP290
48 eye disease 9.2 WDR19 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
49 joubert syndrome 8 9.2 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
50 kidney disease 9.2 TMEM67 NPHP4 NPHP3 NPHP1 NEK8 CEP290

Graphical network of the top 20 diseases related to Nephronophthisis 16:



Diseases related to Nephronophthisis 16

Symptoms & Phenotypes for Nephronophthisis 16

Human phenotypes related to Nephronophthisis 16:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
2 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
3 pulmonic stenosis 31 occasional (7.5%) HP:0001642
4 situs inversus totalis 31 occasional (7.5%) HP:0001696
5 aortic valve stenosis 31 occasional (7.5%) HP:0001650
6 renal insufficiency 31 HP:0000083
7 hepatic fibrosis 31 HP:0001395
8 polycystic kidney dysplasia 31 HP:0000113
9 enlarged kidney 31 HP:0000105
10 cholestasis 31 HP:0001396
11 nephronophthisis 31 HP:0000090

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Liver:
hepatic fibrosis
cholestasis

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Abdomen:
situs inversus (in some patients)

Genitourinary Kidneys:
renal failure
polycystic kidney disease
enlarged kidneys

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
aortic stenosis (in some patients)
pulmonic stenosis (in some patients)

Clinical features from OMIM®:

615382 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ANKS6 BICC1 CEP290 CEP83 INVS NEK8
2 cellular MP:0005384 10.16 BICC1 CEP290 INVS NPHP1 NPHP3 NPHP4
3 growth/size/body region MP:0005378 10.1 ANKS3 ANKS6 BICC1 CEP290 CEP83 INVS
4 embryo MP:0005380 10.07 ANKS3 ANKS6 BICC1 CEP83 INVS NEK9
5 mortality/aging MP:0010768 10 ANKS3 ANKS6 BICC1 CEP290 CEP83 INVS
6 craniofacial MP:0005382 9.98 BICC1 CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
7 digestive/alimentary MP:0005381 9.95 BICC1 INVS NEK8 RPGRIP1L SDCCAG8 TMEM67
8 liver/biliary system MP:0005370 9.73 ANKS6 BICC1 CEP290 INVS RPGRIP1L TMEM67
9 renal/urinary system MP:0005367 9.65 BICC1 CEP290 INVS NEK8 NPHP1 NPHP3
10 respiratory system MP:0005388 9.1 ANKS3 ANKS6 CEP290 INVS NEK8 RPGRIP1L

Drugs & Therapeutics for Nephronophthisis 16

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 16

Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

# Genetic test Affiliating Genes
1 Nephronophthisis 16 29 ANKS6

Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

40
Kidney, Liver, Eye

Publications for Nephronophthisis 16

Articles related to Nephronophthisis 16:

# Title Authors PMID Year
1
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 57 6
23793029 2013
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
3
Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules. 61
32994509 2020
4
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. 61
31678577 2020
5
Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. 61
29899363 2018
6
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. 61
25671767 2015

Variations for Nephronophthisis 16

ClinVar genetic disease variations for Nephronophthisis 16:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKS6 NM_173551.5(ANKS6):c.1973-3C>G SNV Pathogenic 64356 rs397514257 GRCh37: 9:101530535-101530535
GRCh38: 9:98768253-98768253
2 ANKS6 NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) Deletion Pathogenic 64357 rs587777024 GRCh37: 9:101530441-101530451
GRCh38: 9:98768159-98768169
3 ANKS6 NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) Deletion Pathogenic 64358 rs587777025 GRCh37: 9:101513333-101513335
GRCh38: 9:98751051-98751053
4 ANKS6 NM_173551.5(ANKS6):c.2512-2A>C SNV Pathogenic 64359 rs397514258 GRCh37: 9:101498907-101498907
GRCh38: 9:98736625-98736625
5 ANKS6 NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) SNV Pathogenic 571622 rs756090222 GRCh37: 9:101552521-101552521
GRCh38: 9:98790239-98790239
6 ANKS6 NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) Duplication Pathogenic 574976 rs1564228101 GRCh37: 9:101552529-101552530
GRCh38: 9:98790247-98790248
7 ANKS6 NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) SNV Pathogenic 579608 rs369437168 GRCh37: 9:101540694-101540694
GRCh38: 9:98778412-98778412
8 ANKS6 NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) Deletion Pathogenic 661012 rs1588420907 GRCh37: 9:101552708-101552709
GRCh38: 9:98790426-98790427
9 ANKS6 NM_173551.5(ANKS6):c.907+2T>A SNV Pathogenic 1031266 GRCh37: 9:101547112-101547112
GRCh38: 9:98784830-98784830
10 ANKS6 NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) SNV Pathogenic/Likely pathogenic 64355 rs377750405 GRCh37: 9:101542517-101542517
GRCh38: 9:98780235-98780235
11 ANKS6 NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) SNV Likely pathogenic 996117 GRCh37: 9:101546413-101546413
GRCh38: 9:98784131-98784131
12 ANKS6 NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) SNV Likely pathogenic 996118 GRCh37: 9:101546409-101546409
GRCh38: 9:98784127-98784127
13 ANKS6 NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp) SNV Uncertain significance 1011328 GRCh37: 9:101533208-101533208
GRCh38: 9:98770926-98770926
14 ANKS6 NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) SNV Uncertain significance 1022850 GRCh37: 9:101558755-101558755
GRCh38: 9:98796473-98796473
15 ANKS6 NM_173551.5(ANKS6):c.131A>C (p.Glu44Ala) SNV Uncertain significance 1025758 GRCh37: 9:101558643-101558643
GRCh38: 9:98796361-98796361
16 ANKS6 NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala) SNV Uncertain significance 1026632 GRCh37: 9:101552683-101552683
GRCh38: 9:98790401-98790401
17 ANKS6 NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) SNV Uncertain significance 1031714 GRCh37: 9:101558584-101558584
GRCh38: 9:98796302-98796302
18 ANKS6 NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser) SNV Uncertain significance 1031715 GRCh37: 9:101546379-101546379
GRCh38: 9:98784097-98784097
19 ANKS6 NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) SNV Uncertain significance 1041443 GRCh37: 9:101546432-101546432
GRCh38: 9:98784150-98784150
20 ANKS6 NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) SNV Uncertain significance 474455 rs748439897 GRCh37: 9:101552401-101552401
GRCh38: 9:98790119-98790119
21 ANKS6 NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) SNV Uncertain significance 474452 rs374511363 GRCh37: 9:101552835-101552835
GRCh38: 9:98790553-98790553
22 ANKS6 NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) SNV Uncertain significance 474449 rs372265310 GRCh37: 9:101513378-101513378
GRCh38: 9:98751096-98751096
23 ANKS6 NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) SNV Uncertain significance 474450 rs1554752436 GRCh37: 9:101558536-101558536
GRCh38: 9:98796254-98796254
24 ANKS6 NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) SNV Uncertain significance 579133 rs201419783 GRCh37: 9:101518831-101518831
GRCh38: 9:98756549-98756549
25 ANKS6 NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) SNV Uncertain significance 566534 rs146038901 GRCh37: 9:101530392-101530392
GRCh38: 9:98768110-98768110
26 ANKS6 NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) SNV Uncertain significance 566672 rs200902480 GRCh37: 9:101552442-101552442
GRCh38: 9:98790160-98790160
27 ANKS6 NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) SNV Uncertain significance 567567 rs760387934 GRCh37: 9:101530400-101530400
GRCh38: 9:98768118-98768118
28 ANKS6 NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) SNV Uncertain significance 474453 rs181546859 GRCh37: 9:101552716-101552716
GRCh38: 9:98790434-98790434
29 ANKS6 NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) SNV Uncertain significance 474442 rs201297615 GRCh37: 9:101544853-101544853
GRCh38: 9:98782571-98782571
30 ANKS6 NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) SNV Uncertain significance 474446 rs200373053 GRCh37: 9:101533237-101533237
GRCh38: 9:98770955-98770955
31 ANKS6 NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) SNV Uncertain significance 541400 rs376870807 GRCh37: 9:101546340-101546340
GRCh38: 9:98784058-98784058
32 ANKS6 NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) SNV Uncertain significance 541401 rs776931798 GRCh37: 9:101544792-101544792
GRCh38: 9:98782510-98782510
33 ANKS6 NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) SNV Uncertain significance 541402 rs370230003 GRCh37: 9:101518764-101518764
GRCh38: 9:98756482-98756482
34 ANKS6 NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) SNV Uncertain significance 541403 rs1554742278 GRCh37: 9:101530453-101530453
GRCh38: 9:98768171-98768171
35 ANKS6 NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) SNV Uncertain significance 582762 rs202244716 GRCh37: 9:101518795-101518795
GRCh38: 9:98756513-98756513
36 ANKS6 NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) SNV Uncertain significance 638870 rs199722684 GRCh37: 9:101518761-101518761
GRCh38: 9:98756479-98756479
37 ANKS6 NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) SNV Uncertain significance 640676 rs765164797 GRCh37: 9:101507849-101507849
GRCh38: 9:98745567-98745567
38 ANKS6 NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) SNV Uncertain significance 641730 rs41283630 GRCh37: 9:101552584-101552584
GRCh38: 9:98790302-98790302
39 ANKS6 NM_173551.5(ANKS6):c.1220-6C>T SNV Uncertain significance 641802 rs1371737147 GRCh37: 9:101542625-101542625
GRCh38: 9:98780343-98780343
40 ANKS6 NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) SNV Uncertain significance 658948 rs199671276 GRCh37: 9:101552824-101552824
GRCh38: 9:98790542-98790542
41 ANKS6 NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) SNV Uncertain significance 843092 GRCh37: 9:101540654-101540654
GRCh38: 9:98778372-98778372
42 ANKS6 NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) SNV Uncertain significance 853983 GRCh37: 9:101552791-101552791
GRCh38: 9:98790509-98790509
43 ANKS6 NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) SNV Uncertain significance 857507 GRCh37: 9:101540684-101540684
GRCh38: 9:98778402-98778402
44 ANKS6 NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 857938 GRCh37: 9:101536259-101536259
GRCh38: 9:98773977-98773977
45 ANKS6 NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) SNV Uncertain significance 935978 GRCh37: 9:101544826-101544826
GRCh38: 9:98782544-98782544
46 ANKS6 NM_173551.5(ANKS6):c.907+6C>T SNV Uncertain significance 937024 GRCh37: 9:101547108-101547108
GRCh38: 9:98784826-98784826
47 ANKS6 NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) SNV Uncertain significance 938677 GRCh37: 9:101558565-101558565
GRCh38: 9:98796283-98796283
48 ANKS6 NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) SNV Uncertain significance 947081 GRCh37: 9:101542529-101542529
GRCh38: 9:98780247-98780247
49 ANKS6 NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) SNV Uncertain significance 958951 GRCh37: 9:101540547-101540547
GRCh38: 9:98778265-98778265
50 ANKS6 NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) SNV Uncertain significance 959443 GRCh37: 9:101540568-101540568
GRCh38: 9:98778286-98778286

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 16:

72
# Symbol AA change Variation ID SNP ID
1 ANKS6 p.Ala312Pro VAR_070106
2 ANKS6 p.Gln441Arg VAR_070108 rs377750405

Expression for Nephronophthisis 16

Search GEO for disease gene expression data for Nephronophthisis 16.

Pathways for Nephronophthisis 16

GO Terms for Nephronophthisis 16

Cellular components related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
2 cytoskeleton GO:0005856 10 WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
3 microtubule organizing center GO:0005815 9.93 SDCCAG8 RPGRIP1L NPHP4 NEK8 IQCB1 CEP290
4 centrosome GO:0005813 9.92 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
5 cell-cell junction GO:0005911 9.81 SDCCAG8 RPGRIP1L NPHP4 NPHP1
6 ciliary basal body GO:0036064 9.8 SDCCAG8 RPGRIP1L NPHP4 CEP290
7 centriole GO:0005814 9.78 SDCCAG8 IQCB1 CEP83 CEP290
8 cell projection GO:0042995 9.73 WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
9 bicellular tight junction GO:0005923 9.71 RPGRIP1L NPHP4 NPHP1
10 ciliary transition zone GO:0035869 9.71 TMEM67 RPGRIP1L NPHP4 CEP290
11 photoreceptor connecting cilium GO:0032391 9.63 WDR19 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
12 ciliary base GO:0097546 9.56 NPHP4 NEK8
13 non-motile cilium GO:0097730 9.55 WDR19 NPHP4
14 ciliary inversin compartment GO:0097543 9.54 NEK8 INVS ANKS6
15 MKS complex GO:0036038 9.52 TMEM67 CEP290
16 cilium GO:0005929 9.4 WDR19 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1

Biological processes related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.73 NPHP4 NPHP3 INVS BICC1
2 cilium assembly GO:0060271 9.7 WDR19 TMEM67 RPGRIP1L NPHP3 IQCB1 CEP83
3 determination of left/right symmetry GO:0007368 9.65 RPGRIP1L NPHP3 NEK8 BICC1 ANKS6
4 kidney development GO:0001822 9.62 RPGRIP1L NPHP3 BICC1 ANKS6
5 photoreceptor cell maintenance GO:0045494 9.54 NPHP4 NPHP3 IQCB1
6 cell projection organization GO:0030030 9.5 WDR19 TMEM67 SDCCAG8 NPHP1 IQCB1 CEP83
7 positive regulation of bicellular tight junction assembly GO:1903348 9.48 NPHP4 NPHP1
8 maintenance of animal organ identity GO:0048496 9.46 NPHP3 IQCB1
9 visual behavior GO:0007632 9.4 NPHP4 NPHP1
10 ciliary basal body-plasma membrane docking GO:0097711 9.23 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 IQCB1

Molecular functions related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3

Sources for Nephronophthisis 16

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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