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 56 12 73 29 6 15 71
Nphp16 56 12 73
Nephronophthisis, Type 16 39

Characteristics:

OMIM:

56
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 : 73 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 caroli disease and bardet-biedl syndrome 18. 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 and liver, 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 92)
# Related Disease Score Top Affiliating Genes
1 caroli disease 10.2 NPHP3 INVS
2 bardet-biedl syndrome 18 10.2 SDCCAG8 MKS1
3 bardet-biedl syndrome 16 10.2 SDCCAG8 MKS1
4 nephronophthisis 4 10.1 NPHP4 NPHP1
5 renal dysplasia, cystic 10.1 NPHP3 CEP290
6 retinal ciliopathy 10.1 IQCB1 CEP290
7 hyperuricemic nephropathy, familial juvenile, 1 10.1 NPHP4 NPHP1
8 simpson-golabi-behmel syndrome, type 2 10.0 SDCCAG8 CEP290
9 joubert syndrome 14 10.0 TMEM107 NPHP4
10 joubert syndrome 20 10.0 TMEM107 NPHP4
11 polycystic kidney disease 1 with or without polycystic liver disease 10.0 NPHP3 NEK9 NEK8 INVS
12 leber congenital amaurosis 6 10.0 MKS1 CEP290
13 leber congenital amaurosis 10 9.9 IQCB1 CEP290
14 bardet-biedl syndrome 13 9.9 MKS1 CEP290
15 nephronophthisis 1 9.9 NPHP4 NPHP3 NPHP1 INVS
16 orofaciodigital syndrome i 9.9 CEP83 CEP290
17 joubert syndrome 15 9.9 RPGRIP1L NPHP4 NPHP1
18 cone-rod dystrophy 13 9.9 RPGRIP1L NPHP4 IQCB1
19 end stage renal disease 9.8 NPHP4 NPHP3 NEK8 INVS
20 leber congenital amaurosis 3 9.8 NPHP4 CEP290
21 cogan syndrome 9.8 NPHP4 NPHP1 CEP290
22 bardet-biedl syndrome 11 9.8 SDCCAG8 MKS1 CEP290
23 bardet-biedl syndrome 8 9.8 MKS1 CEP290
24 polycystic liver disease 1 with or without kidney cysts 9.7 NPHP4 NPHP1
25 joubert syndrome 24 9.7 RPGRIP1L NPHP1 CEP290
26 bardet-biedl syndrome 3 9.7 MKS1 CEP290
27 congenital hepatic fibrosis 9.6 TMEM67 RPGRIP1L ANKS6
28 johanson-blizzard syndrome 9.6 RPGRIP1L CEP290
29 asphyxiating thoracic dystrophy 9.6 RPGRIP1L NPHP4 CEP290
30 meckel syndrome, type 8 9.6 TMEM67 RPGRIP1L NPHP3
31 joubert syndrome 10 9.6 TMEM67 RPGRIP1L NPHP1
32 juvenile nephronophthisis 9.5 NPHP4 NPHP3 NPHP1 IQCB1 INVS ANKS6
33 oligohydramnios 9.5 TMEM67 NEK8 MKS1 INVS
34 infantile nephronophthisis 9.5 NPHP4 NPHP3 NEK8 INVS CEP83 ANKS6
35 polycystic kidney disease 9.5 TMEM67 NPHP3 NEK8 INVS ANKS6
36 encephalocele 9.4 TMEM67 MKS1 CEP290
37 retinal aplasia 9.4 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
38 physical disorder 9.4 TMEM67 MKS1 CEP290
39 pathologic nystagmus 9.4 TMEM67 MKS1 CEP290
40 alstrom syndrome 9.4 RPGRIP1L NPHP3 NPHP1 NEK9 CEP290
41 eye disease 9.3 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
42 ciliopathy 9.3 TMEM67 SDCCAG8 RPGRIP1L NPHP4
43 nephronophthisis 18 9.2 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 INVS
44 bardet-biedl syndrome 6 9.2 SDCCAG8 RPGRIP1L MKS1 INVS CEP290
45 joubert syndrome 13 9.1 TMEM67 RPGRIP1L NPHP1 CEP290
46 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 TMEM67 RPGRIP1L NPHP1 CEP290
47 apraxia 9.1 TMEM67 RPGRIP1L NPHP1 CEP290
48 kidney disease 9.1 TMEM67 NPHP4 NPHP1 NEK8 CEP290
49 nephronophthisis 15 9.1 SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 NEK8
50 polycystic kidney disease 2 with or without polycystic liver disease 9.0 TMEM67 NPHP4 NEK9 NEK8 MKS1 INVS

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:

56
Abdomen Liver:
hepatic fibrosis
cholestasis

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

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

Genitourinary Kidneys:
renal failure
polycystic kidney disease
enlarged kidneys

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615382

MGI Mouse Phenotypes related to Nephronophthisis 16:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ANKS6 CEP290 CEP83 INVS MKS1 NEK8
2 cellular MP:0005384 10.19 CEP290 INVS MKS1 NPHP1 NPHP3 NPHP4
3 growth/size/body region MP:0005378 10.18 ANKS6 CEP290 CEP83 INVS IQCB1 MKS1
4 mortality/aging MP:0010768 10.17 ANKS3 ANKS6 CEP290 CEP83 INVS IQCB1
5 embryo MP:0005380 10.09 ANKS6 CEP83 INVS MKS1 NEK9 NPHP3
6 craniofacial MP:0005382 10.02 CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8 TMEM107
7 digestive/alimentary MP:0005381 10 INVS MKS1 NEK8 RPGRIP1L SDCCAG8 TMEM107
8 liver/biliary system MP:0005370 9.91 ANKS6 CEP290 INVS MKS1 RPGRIP1L TMEM107
9 nervous system MP:0003631 9.91 CEP290 MKS1 NPHP1 NPHP3 NPHP4 RPGRIP1L
10 renal/urinary system MP:0005367 9.9 CEP290 INVS MKS1 NEK8 NPHP1 NPHP3
11 respiratory system MP:0005388 9.43 ANKS6 CEP290 INVS MKS1 NEK8 RPGRIP1L
12 vision/eye MP:0005391 9.17 CEP290 MKS1 NPHP1 NPHP4 RPGRIP1L SDCCAG8

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

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. 6 56
23793029 2013
2
Nephronophthisis 6
27336129 2016
3
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. 61
31678577 2020
4
Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. 61
29899363 2018
5
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 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKS6 NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)SNV Pathogenic 579608 rs369437168 9:101540694-101540694 9:98778412-98778412
2 ANKS6 NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)SNV Pathogenic 571622 rs756090222 9:101552521-101552521 9:98790239-98790239
3 ANKS6 NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)duplication Pathogenic 574976 rs1564228101 9:101552529-101552530 9:98790247-98790248
4 ANKS6 NM_173551.5(ANKS6):c.539_540del (p.Leu180fs)deletion Pathogenic 661012 9:101552708-101552709 9:98790426-98790427
5 ANKS6 NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)deletion Pathogenic 64358 rs587777025 9:101513333-101513335 9:98751051-98751053
6 ANKS6 NM_173551.5(ANKS6):c.2054_2064del (p.His685fs)deletion Pathogenic 64357 rs587777024 9:101530441-101530451 9:98768159-98768169
7 ANKS6 NM_173551.5(ANKS6):c.2512-2A>CSNV Pathogenic 64359 rs397514258 9:101498907-101498907 9:98736625-98736625
8 ANKS6 NM_173551.5(ANKS6):c.1973-3C>GSNV Likely pathogenic 64356 rs397514257 9:101530535-101530535 9:98768253-98768253
9 ANKS6 NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn)SNV Conflicting interpretations of pathogenicity 262859 rs79073889 9:101546410-101546410 9:98784128-98784128
10 ANKS6 NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)SNV Conflicting interpretations of pathogenicity 390055 rs199851177 9:101498824-101498824 9:98736542-98736542
11 ANKS6 NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu)SNV Uncertain significance 541402 rs370230003 9:101518764-101518764 9:98756482-98756482
12 ANKS6 NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln)SNV Uncertain significance 857938 9:101536259-101536259 9:98773977-98773977
13 ANKS6 NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met)SNV Uncertain significance 843092 9:101540654-101540654 9:98778372-98778372
14 ANKS6 NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser)SNV Uncertain significance 857507 9:101540684-101540684 9:98778402-98778402
15 ANKS6 NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp)SNV Uncertain significance 853983 9:101552791-101552791 9:98790509-98790509
16 ANKS6 NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp)SNV Uncertain significance 658948 9:101552824-101552824 9:98790542-98790542
17 ANKS6 NM_173551.5(ANKS6):c.1220-6C>TSNV Uncertain significance 641802 9:101542625-101542625 9:98780343-98780343
18 ANKS6 NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu)SNV Uncertain significance 474446 rs200373053 9:101533237-101533237 9:98770955-98770955
19 ANKS6 NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser)SNV Uncertain significance 474452 rs374511363 9:101552835-101552835 9:98790553-98790553
20 ANKS6 NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr)SNV Uncertain significance 640676 9:101507849-101507849 9:98745567-98745567
21 ANKS6 NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu)SNV Uncertain significance 638870 9:101518761-101518761 9:98756479-98756479
22 ANKS6 NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly)SNV Uncertain significance 641730 9:101552584-101552584 9:98790302-98790302
23 ANKS6 NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)SNV Uncertain significance 579133 rs201419783 9:101518831-101518831 9:98756549-98756549
24 ANKS6 NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg)SNV Uncertain significance 566672 rs200902480 9:101552442-101552442 9:98790160-98790160
25 ANKS6 NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser)SNV Uncertain significance 566534 rs146038901 9:101530392-101530392 9:98768110-98768110
26 ANKS6 NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg)SNV Uncertain significance 582762 rs202244716 9:101518795-101518795 9:98756513-98756513
27 ANKS6 NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu)SNV Uncertain significance 567567 rs760387934 9:101530400-101530400 9:98768118-98768118
28 ANKS6 NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser)SNV Uncertain significance 474442 rs201297615 9:101544853-101544853 9:98782571-98782571
29 ANKS6 NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly)SNV Uncertain significance 474449 rs372265310 9:101513378-101513378 9:98751096-98751096
30 ANKS6 NM_173551.5(ANKS6):c.847G>A (p.Val283Ile)SNV Uncertain significance 474455 rs748439897 9:101552401-101552401 9:98790119-98790119
31 ANKS6 NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)SNV Uncertain significance 474453 rs181546859 9:101552716-101552716 9:98790434-98790434
32 ANKS6 NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala)SNV Uncertain significance 474450 rs1554752436 9:101558536-101558536 9:98796254-98796254
33 ANKS6 NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg)SNV Uncertain significance 541403 rs1554742278 9:101530453-101530453 9:98768171-98768171
34 ANKS6 NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met)SNV Uncertain significance 541400 rs376870807 9:101546340-101546340 9:98784058-98784058
35 ANKS6 NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys)SNV Uncertain significance 541401 rs776931798 9:101544792-101544792 9:98782510-98782510
36 ANKS6 NM_173551.5(ANKS6):c.1902G>A (p.Ser634=)SNV Likely benign 474445 rs765475331 9:101533248-101533248 9:98770966-98770966
37 ANKS6 NM_173551.5(ANKS6):c.1731G>A (p.Thr577=)SNV Likely benign 474443 rs201821907 9:101536249-101536249 9:98773967-98773967
38 ANKS6 NM_173551.5(ANKS6):c.193G>T (p.Val65Phe)SNV Likely benign 474447 rs745881769 9:101558581-101558581 9:98796299-98796299
39 ANKS6 NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)SNV Likely benign 474451 rs200644058 9:101498853-101498853 9:98736571-98736571
40 ANKS6 NM_173551.5(ANKS6):c.2310C>T (p.Gly770=)SNV Likely benign 474448 rs181456709 9:101518718-101518718 9:98756436-98756436
41 ANKS6 NM_173551.5(ANKS6):c.1641C>A (p.Thr547=)SNV Likely benign 775032 9:101536339-101536339 9:98774057-98774057
42 ANKS6 NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser)SNV Likely benign 707351 9:101540550-101540550 9:98778268-98778268
43 ANKS6 NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg)SNV Likely benign 767247 9:101536208-101536208 9:98773926-98773926
44 ANKS6 NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr)SNV Likely benign 767308 9:101536290-101536290 9:98774008-98774008
45 ANKS6 NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln)SNV Likely benign 778950 9:101552476-101552476 9:98790194-98790194
46 ANKS6 NM_173551.5(ANKS6):c.538C>T (p.Leu180=)SNV Likely benign 771090 9:101552710-101552710 9:98790428-98790428
47 ANKS6 NM_173551.5(ANKS6):c.2094G>A (p.Pro698=)SNV Likely benign 720041 9:101530411-101530411 9:98768129-98768129
48 ANKS6 NM_173551.5(ANKS6):c.1611A>C (p.Thr537=)SNV Likely benign 719108 9:101539693-101539693 9:98777411-98777411
49 ANKS6 NM_173551.5(ANKS6):c.583C>T (p.Leu195=)SNV Likely benign 726262 9:101552665-101552665 9:98790383-98790383
50 ANKS6 NM_173551.5(ANKS6):c.2265G>C (p.Ser755=)SNV Likely benign 743806 9:101518763-101518763 9:98756481-98756481

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

73
# 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 10.34 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 NEK9
2 cytosol GO:0005829 10.26 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK9
3 cytoskeleton GO:0005856 10.06 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 NEK8
4 microtubule organizing center GO:0005815 9.98 SDCCAG8 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1
5 centrosome GO:0005813 9.91 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
6 centriole GO:0005814 9.88 SDCCAG8 MKS1 IQCB1 CEP83 CEP290
7 ciliary basal body GO:0036064 9.85 SDCCAG8 RPGRIP1L NPHP4 MKS1 CEP290
8 cell-cell junction GO:0005911 9.83 SDCCAG8 RPGRIP1L NPHP4 NPHP1
9 photoreceptor connecting cilium GO:0032391 9.77 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
10 cell projection GO:0042995 9.77 TMEM67 TMEM107 SDCCAG8 RPGRIP1L NPHP4 NPHP3
11 bicellular tight junction GO:0005923 9.71 RPGRIP1L NPHP4 NPHP1
12 MKS complex GO:0036038 9.71 TMEM67 TMEM107 MKS1 CEP290
13 ciliary transition zone GO:0035869 9.63 TMEM67 TMEM107 RPGRIP1L NPHP4 MKS1 CEP290
14 ciliary base GO:0097546 9.55 NPHP4 NEK8
15 ciliary inversin compartment GO:0097543 9.51 NEK8 INVS
16 cilium GO:0005929 9.4 TMEM67 TMEM107 RPGRIP1L NPHP4 NPHP3 NPHP1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.76 TMEM67 TMEM107 RPGRIP1L NPHP3 MKS1 IQCB1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.72 NPHP4 NPHP3 INVS
3 non-motile cilium assembly GO:1905515 9.61 TMEM107 RPGRIP1L MKS1
4 determination of left/right symmetry GO:0007368 9.56 RPGRIP1L NPHP3 NEK8 MKS1
5 cell projection organization GO:0030030 9.56 TMEM67 TMEM107 SDCCAG8 NPHP1 MKS1 IQCB1
6 regulation of smoothened signaling pathway GO:0008589 9.54 RPGRIP1L MKS1
7 head development GO:0060322 9.52 RPGRIP1L MKS1
8 neural tube patterning GO:0021532 9.51 TMEM107 RPGRIP1L
9 photoreceptor cell maintenance GO:0045494 9.5 NPHP4 NPHP3 IQCB1
10 protein localization to ciliary transition zone GO:1904491 9.49 TMEM107 NPHP4
11 positive regulation of bicellular tight junction assembly GO:1903348 9.48 NPHP4 NPHP1
12 maintenance of animal organ identity GO:0048496 9.46 NPHP3 IQCB1
13 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.4 NPHP3 MKS1
14 visual behavior GO:0007632 9.37 NPHP4 NPHP1
15 ciliary basal body-plasma membrane docking GO:0097711 9.28 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1

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 TMEM67 TMEM107 SDCCAG8 RPGRIP1L NPHP4 NPHP3

Sources for Nephronophthisis 16

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