NPHP11
MCID: NPH053
MIFTS: 44

Nephronophthisis 11 (NPHP11)

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

Aliases & Classifications for Nephronophthisis 11

MalaCards integrated aliases for Nephronophthisis 11:

Name: Nephronophthisis 11 56 12 73 29 13 6 15 71
Nphp11 56 12 73
Nephronophthisis, Type 11 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

31
nephronophthisis 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 11

UniProtKB/Swiss-Prot : 73 Nephronophthisis 11: A disorder characterized by the association of nephronophthisis with hepatic fibrosis. 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. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent.

MalaCards based summary : Nephronophthisis 11, also known as nphp11, is related to nephronophthisis 1 and joubert syndrome 6, and has symptoms including polydipsia and polyuria. An important gene associated with Nephronophthisis 11 is TMEM67 (Transmembrane Protein 67), 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 global developmental delay and nystagmus

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.

More information from OMIM: 613550 PS256100

Related Diseases for Nephronophthisis 11

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 29.9 NPHP4 NPHP3 NPHP1 INVS
2 joubert syndrome 6 29.3 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
3 retinal degeneration 28.9 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
4 meckel syndrome, type 3 27.9 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3 NPHP1
5 coach syndrome 27.2 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
6 cystic kidney disease 25.9 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3
7 joubert syndrome 1 25.0 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
8 meckel syndrome, type 1 24.9 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
9 nephronophthisis 24.8 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
10 renal dysplasia, cystic 10.2 NPHP3 CEP290
11 joubert syndrome 14 10.2 TMEM216 NPHP4
12 retinal ciliopathy 10.2 IQCB1 CEP290
13 joubert syndrome 15 10.1 RPGRIP1L NPHP4 NPHP1
14 leber congenital amaurosis 3 10.1 NPHP4 CEP290
15 rhyns syndrome 10.1
16 senior-boichis syndrome 10.1
17 congenital hepatic fibrosis 10.1 TMEM67 RPGRIP1L CC2D2A
18 cogan syndrome 10.1 NPHP4 NPHP1 CEP290
19 leber congenital amaurosis 10 10.1 IQCB1 CEP290
20 cone-rod dystrophy 13 10.1 RPGRIP1L NPHP4 IQCB1
21 nephronophthisis 4 10.1 NPHP4 NPHP1
22 simpson-golabi-behmel syndrome, type 2 10.1 SDCCAG8 CEP290
23 encephalocele 10.1 TMEM67 CEP290 CC2D2A
24 joubert syndrome 24 10.1 RPGRIP1L NPHP1 CEP290
25 nephronophthisis-like nephropathy 1 10.0 TTC21B NPHP1
26 cerebellar hypoplasia 10.0 TMEM67 RPGRIP1L CC2D2A
27 caroli disease 10.0 NPHP3 INVS
28 hyperuricemic nephropathy, familial juvenile, 1 10.0 NPHP4 NPHP1
29 meckel syndrome, type 7 10.0 TMEM216 NPHP3 CC2D2A
30 arima syndrome 10.0 TMEM216 CEP290 CC2D2A
31 bardet-biedl syndrome 11 9.9 SDCCAG8 CEP290
32 orofaciodigital syndrome 9.8 TMEM67 TMEM216 NPHP1 CEP290
33 polycystic liver disease 1 with or without kidney cysts 9.8 NPHP4 NPHP1
34 short-rib thoracic dysplasia 6 with or without polydactyly 9.8 TTC21B TMEM67 TMEM216
35 johanson-blizzard syndrome 9.8 TMEM216 RPGRIP1L CEP290 CC2D2A
36 asphyxiating thoracic dystrophy 9.7 TTC21B RPGRIP1L NPHP4 CEP290
37 meckel syndrome, type 8 9.6 TMEM67 TMEM216 RPGRIP1L NPHP3 CC2D2A
38 apraxia 9.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290
39 joubert syndrome 10 9.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
40 bardet-biedl syndrome 6 9.6 SDCCAG8 RPGRIP1L INVS CEP290
41 ellis-van creveld syndrome 9.6 TTC21B TMEM216 RPGRIP1L CEP290
42 polydactyly 9.6 TTC21B SDCCAG8 CEP290 CC2D2A
43 retinal aplasia 9.5 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
44 juvenile nephronophthisis 9.5 NPHP4 NPHP3 NPHP1 IQCB1 INVS
45 ciliopathy 9.5 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
46 alstrom syndrome 9.4 RPGRIP1L NPHP3 NPHP1 NEK9 CEP290
47 polycystic kidney disease 9.4 TMEM67 NPHP3 NEK8 INVS
48 eye disease 9.4 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
49 joubert syndrome 9 9.4 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
50 joubert syndrome 7 9.4 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A

Graphical network of the top 20 diseases related to Nephronophthisis 11:



Diseases related to Nephronophthisis 11

Symptoms & Phenotypes for Nephronophthisis 11

Human phenotypes related to Nephronophthisis 11:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 nystagmus 31 occasional (7.5%) HP:0000639
3 strabismus 31 occasional (7.5%) HP:0000486
4 retinal degeneration 31 occasional (7.5%) HP:0000546
5 anisocoria 31 occasional (7.5%) HP:0009916
6 polydipsia 31 HP:0001959
7 anemia 31 HP:0001903
8 growth delay 31 HP:0001510
9 hepatic fibrosis 31 HP:0001395
10 nephronophthisis 31 HP:0000090
11 stage 5 chronic kidney disease 31 HP:0003774
12 renal tubular atrophy 31 HP:0000092
13 psychomotor retardation 31 HP:0025356
14 polyuria 31 HP:0000103
15 renal corticomedullary cysts 31 HP:0000108
16 tubular basement membrane disintegration 31 HP:0005583

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
polydipsia
polyuria

Abdomen Liver:
hepatic fibrosis

Growth Other:
growth retardation

Neurologic Central Nervous System:
mild cortical atrophy (in 1 patient)
psychomotor retardation (in 1 patient)

Hematology:
anemia

Genitourinary Kidneys:
nephronophthisis
tubular basement membrane disintegration
interstitial fibrosis
tubular atrophy
end stage renal disease
more
Head And Neck Eyes:
retinal degeneration (in 1 patient)
anisocoria (in 1 patient)
strabismus (in 1 patient)
nystagmus (in 1 patient)

Clinical features from OMIM:

613550

UMLS symptoms related to Nephronophthisis 11:


polydipsia, polyuria

MGI Mouse Phenotypes related to Nephronophthisis 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CC2D2A CEP290 INVS NPHP1 NPHP3 NPHP4
2 cardiovascular system MP:0005385 10.11 CC2D2A CEP290 INVS NEK8 NEK9 NPHP3
3 growth/size/body region MP:0005378 9.96 CC2D2A CEP290 INVS IQCB1 NEK8 NPHP3
4 craniofacial MP:0005382 9.95 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
5 mortality/aging MP:0010768 9.9 CC2D2A CEP290 INVS IQCB1 NEK8 NEK9
6 embryo MP:0005380 9.87 CC2D2A INVS NEK9 NPHP3 RPGRIP1L TMEM67
7 digestive/alimentary MP:0005381 9.85 CC2D2A INVS NEK8 RPGRIP1L SDCCAG8 TMEM67
8 nervous system MP:0003631 9.61 CC2D2A CEP290 NPHP1 NPHP3 NPHP4 RPGRIP1L
9 renal/urinary system MP:0005367 9.36 CC2D2A CEP290 INVS NEK8 NPHP1 NPHP3

Drugs & Therapeutics for Nephronophthisis 11

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 11

Genetic Tests for Nephronophthisis 11

Genetic tests related to Nephronophthisis 11:

# Genetic test Affiliating Genes
1 Nephronophthisis 11 29 TMEM67

Anatomical Context for Nephronophthisis 11

MalaCards organs/tissues related to Nephronophthisis 11:

40
Kidney, Liver

Publications for Nephronophthisis 11

Articles related to Nephronophthisis 11:

# Title Authors PMID Year
1
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 56 61 6
19508969 2009
2
Nephronophthisis 6
27336129 2016
3
Congenital hepatic fibrosis and nephronophthisis. A family study. 56
4688793 1973
4
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017
5
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 61
23188109 2012
6
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 61
21866095 2011
7
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 61
20607301 2010
8
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 61
20179356 2010

Variations for Nephronophthisis 11

ClinVar genetic disease variations for Nephronophthisis 11:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)SNV Pathogenic 1384 rs267607117 8:94792975-94792975 8:93780747-93780747
2 TMEM67 NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)SNV Pathogenic 1385 rs267607116 8:94821089-94821089 8:93808861-93808861
3 TMEM67 NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)SNV Pathogenic 1382 rs267607116 8:94821089-94821089 8:93808861-93808861
4 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
5 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
6 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
7 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
8 TMEM67 NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)SNV Conflicting interpretations of pathogenicity 217729 rs863225238 8:94809684-94809684 8:93797456-93797456
9 TMEM67 NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)SNV Conflicting interpretations of pathogenicity 242363 rs115563233 8:94811986-94811986 8:93799758-93799758
10 TMEM67 NM_153704.6(TMEM67):c.120T>C (p.Ser40=)SNV Conflicting interpretations of pathogenicity 262741 rs767999682 8:94767262-94767262 8:93755034-93755034
11 TMEM67 NM_001142301.1(TMEM67):c.626+9A>GSNV Conflicting interpretations of pathogenicity 262756 rs372597584 8:94792984-94792984 8:93780756-93780756
12 TMEM67 NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)SNV Conflicting interpretations of pathogenicity 262745 rs886038738 8:94821076-94821076 8:93808848-93808848
13 TMEM67 NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)SNV Conflicting interpretations of pathogenicity 262749 rs115967793 8:94828644-94828644 8:93816416-93816416
14 TMEM67 NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)SNV Conflicting interpretations of pathogenicity 126302 rs116445698 8:94811906-94811906 8:93799678-93799678
15 TMEM67 NM_153704.6(TMEM67):c.369C>T (p.Ala123=)SNV Conflicting interpretations of pathogenicity 286625 rs115640152 8:94770767-94770767 8:93758539-93758539
16 TMEM67 NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)SNV Conflicting interpretations of pathogenicity 363928 rs369812327 8:94828620-94828620 8:93816392-93816392
17 TMEM67 NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)SNV Conflicting interpretations of pathogenicity 363920 rs774288177 8:94800105-94800105 8:93787877-93787877
18 TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)SNV Conflicting interpretations of pathogenicity 1377 rs111619594 8:94793190-94793190 8:93780962-93780962
19 TMEM67 NM_153704.6(TMEM67):c.186T>C (p.Cys62=)SNV Conflicting interpretations of pathogenicity 215970 rs115660279 8:94767328-94767328 8:93755100-93755100
20 TMEM67 NM_001142301.1(TMEM67):c.*1434T>CSNV Uncertain significance 363937 rs886063178 8:94830114-94830114 8:93817886-93817886
21 TMEM67 NM_001142301.1(TMEM67):c.*179T>CSNV Uncertain significance 363930 rs886063174 8:94828859-94828859 8:93816631-93816631
22 TMEM67 NM_001142301.1(TMEM67):c.*300G>ASNV Uncertain significance 363932 rs886063176 8:94828980-94828980 8:93816752-93816752
23 TMEM67 NM_001142301.1(TMEM67):c.*941T>CSNV Uncertain significance 363935 rs112317911 8:94829621-94829621 8:93817393-93817393
24 TMEM67 NM_001142301.1(TMEM67):c.*942G>ASNV Uncertain significance 363936 rs886063177 8:94829622-94829622 8:93817394-93817394
25 TMEM67 NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)SNV Uncertain significance 363919 rs199708882 8:94767279-94767279 8:93755051-93755051
26 TMEM67 NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)SNV Uncertain significance 363921 rs114655330 8:94800170-94800170 8:93787942-93787942
27 TMEM67 NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser)SNV Uncertain significance 363922 rs148726767 8:94807662-94807662 8:93795434-93795434
28 TMEM67 NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)SNV Uncertain significance 363923 rs201949664 8:94815889-94815889 8:93803661-93803661
29 TMEM67 NM_001142301.1(TMEM67):c.2313+4T>GSNV Uncertain significance 363924 rs772449181 8:94821188-94821188 8:93808960-93808960
30 TMEM67 NM_001142301.1(TMEM67):c.2313+5G>CSNV Uncertain significance 363925 rs886063172 8:94821189-94821189 8:93808961-93808961
31 TMEM67 NM_001142301.1(TMEM67):c.*853G>ASNV Uncertain significance 363934 rs191740525 8:94829533-94829533 8:93817305-93817305
32 TMEM67 NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile)SNV Uncertain significance 363929 rs886063173 8:94828667-94828667 8:93816439-93816439
33 TMEM67 NM_001142301.1(TMEM67):c.*1653G>ASNV Uncertain significance 363938 rs544858713 8:94830333-94830333 8:93818105-93818105
34 TMEM67 NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro)SNV Uncertain significance 363917 rs886063170 8:94767219-94767219 8:93754991-93754991
35 TMEM67 NM_001142301.1(TMEM67):c.*218T>CSNV Uncertain significance 363931 rs886063175 8:94828898-94828898 8:93816670-93816670
36 TMEM67 NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)SNV Uncertain significance 363916 rs146838062 8:94767171-94767171 8:93754943-93754943
37 TMEM67 NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly)SNV Uncertain significance 363926 rs201393025 8:94821298-94821298 8:93809070-93809070
38 TMEM67 NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)SNV Uncertain significance 363927 rs191759530 8:94828616-94828616 8:93816388-93816388
39 TMEM67 NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)SNV Uncertain significance 449519 rs202036490 8:94784818-94784818 8:93772590-93772590
40 TMEM67 NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)SNV Uncertain significance 497917 rs370004832 8:94809607-94809607 8:93797379-93797379
41 TMEM67 NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)SNV Uncertain significance 661970 8:94798541-94798541 8:93786313-93786313
42 TMEM67 NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)SNV Uncertain significance 909996 8:94768051-94768051 8:93755823-93755823
43 TMEM67 NM_153704.6(TMEM67):c.282T>C (p.Ala94=)SNV Uncertain significance 910884 8:94768064-94768064 8:93755836-93755836
44 TMEM67 NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)SNV Uncertain significance 912110 8:94777666-94777666 8:93765438-93765438
45 TMEM67 NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)SNV Uncertain significance 912174 8:94805438-94805438 8:93793210-93793210
46 TMEM67 NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)SNV Uncertain significance 908168 8:94808136-94808136 8:93795908-93795908
47 TMEM67 NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)SNV Uncertain significance 910124 8:94809574-94809574 8:93797346-93797346
48 TMEM67 NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)SNV Uncertain significance 912245 8:94815868-94815868 8:93803640-93803640
49 TMEM67 NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)SNV Uncertain significance 908240 8:94815881-94815881 8:93803653-93803653
50 TMEM67 NM_153704.6(TMEM67):c.2242-7G>ASNV Uncertain significance 912244 8:94815825-94815825 8:93803597-93803597

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 11:

73
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Cys615Arg VAR_062319 rs201893408
2 TMEM67 p.Trp290Leu VAR_064185 rs267607117
3 TMEM67 p.Gly821Arg VAR_064186 rs267607116
4 TMEM67 p.Gly821Ser VAR_064187 rs267607116

Expression for Nephronophthisis 11

Search GEO for disease gene expression data for Nephronophthisis 11.

Pathways for Nephronophthisis 11

GO Terms for Nephronophthisis 11

Cellular components related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
2 cytosol GO:0005829 10.24 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1
3 cytoskeleton GO:0005856 10.03 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
4 centrosome GO:0005813 10.01 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
5 microtubule organizing center GO:0005815 9.91 SDCCAG8 RPGRIP1L NPHP4 NEK8 IQCB1 CEP290
6 cell-cell junction GO:0005911 9.81 SDCCAG8 RPGRIP1L NPHP4 NPHP1
7 ciliary basal body GO:0036064 9.8 SDCCAG8 RPGRIP1L NPHP4 CEP290
8 cell projection GO:0042995 9.73 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
9 centriole GO:0005814 9.72 SDCCAG8 IQCB1 CEP290
10 photoreceptor connecting cilium GO:0032391 9.72 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 bicellular tight junction GO:0005923 9.7 RPGRIP1L NPHP4 NPHP1
12 MKS complex GO:0036038 9.67 TMEM67 TMEM216 CEP290 CC2D2A
13 ciliary transition zone GO:0035869 9.63 TMEM67 TMEM216 RPGRIP1L NPHP4 CEP290 CC2D2A
14 ciliary base GO:0097546 9.56 NPHP4 NEK8
15 ciliary inversin compartment GO:0097543 9.48 NEK8 INVS
16 cilium GO:0005929 9.36 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3

Biological processes related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.7 TMEM67 TMEM216 RPGRIP1L NPHP3 IQCB1 CEP290
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.69 NPHP4 NPHP3 INVS
3 non-motile cilium assembly GO:1905515 9.58 TMEM216 RPGRIP1L CC2D2A
4 determination of left/right symmetry GO:0007368 9.56 RPGRIP1L NPHP3 NEK8 CC2D2A
5 photoreceptor cell maintenance GO:0045494 9.5 NPHP4 NPHP3 IQCB1
6 cell projection organization GO:0030030 9.5 TMEM67 TMEM216 SDCCAG8 NPHP1 IQCB1 CEP290
7 regulation of smoothened signaling pathway GO:0008589 9.49 TTC21B RPGRIP1L
8 protein localization to ciliary transition zone GO:1904491 9.48 NPHP4 CC2D2A
9 positive regulation of bicellular tight junction assembly GO:1903348 9.46 NPHP4 NPHP1
10 maintenance of animal organ identity GO:0048496 9.43 NPHP3 IQCB1
11 visual behavior GO:0007632 9.37 NPHP4 NPHP1
12 ciliary basal body-plasma membrane docking GO:0097711 9.28 TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP1

Molecular functions related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4

Sources for Nephronophthisis 11

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
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