NPHP11
MCID: NPH053
MIFTS: 45

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 57 12 72 29 13 6 15 70
Nphp11 57 12 72
Nephronophthisis, Type 11 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in childhood


HPO:

31
nephronophthisis 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 11

UniProtKB/Swiss-Prot : 72 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 spinocerebellar ataxia 29, 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 liver, kidney and eye, and related phenotypes are nystagmus and global developmental delay

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 98)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 29.7 NPHP4 NPHP3 NPHP1 INVS
2 spinocerebellar ataxia 29 29.3 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
3 joubert syndrome 6 29.1 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
4 retinal degeneration 28.8 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
5 meckel syndrome, type 3 28.3 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3 NPHP1
6 cystic kidney disease 27.8 TMEM67 NPHP4 NPHP3 NPHP1 NEK9 NEK8
7 coach syndrome 1 27.6 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
8 nephronophthisis 26.1 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
9 joubert syndrome 1 26.1 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
10 meckel syndrome, type 1 26.1 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
11 retinal ciliopathy 10.2 IQCB1 CEP290
12 leber congenital amaurosis 13 10.1 IQCB1 CEP290
13 leber congenital amaurosis 10 10.1 IQCB1 CEP290
14 cone-rod dystrophy 13 10.1 RPGRIP1L NPHP4 IQCB1
15 renal dysplasia, cystic 10.1 NPHP3 CEP290
16 nephronophthisis 4 10.1 NPHP4 NPHP1
17 joubert syndrome 14 10.1 TMEM216 NPHP4
18 congenital hepatic fibrosis 10.1 TMEM67 RPGRIP1L CC2D2A
19 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
20 leber congenital amaurosis 4 10.1 IQCB1 CEP290
21 joubert syndrome 24 10.0 RPGRIP1L NPHP1 CEP290
22 tubulointerstitial kidney disease, autosomal dominant, 1 10.0 NPHP4 NPHP1
23 encephalocele 10.0 TMEM67 CEP290 CC2D2A
24 simpson-golabi-behmel syndrome, type 2 10.0 SDCCAG8 CEP290
25 orofaciodigital syndrome 10.0 TMEM67 TMEM216 CEP290
26 caroli disease 10.0 NPHP3 NPHP1 INVS
27 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP4 NPHP1
28 oligohydramnios 10.0 TMEM67 INVS CC2D2A
29 physical disorder 10.0 TMEM67 INVS CEP290
30 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L NPHP1
31 meckel syndrome, type 7 9.9 TMEM216 NPHP3 CC2D2A
32 bardet-biedl syndrome 11 9.9 SDCCAG8 RPGRIP1L CEP290
33 joubert syndrome 15 9.9 RPGRIP1L NPHP4 NPHP1 CC2D2A
34 rhyns syndrome 9.9
35 senior-boichis syndrome 9.9
36 apraxia 9.9 TMEM67 NPHP1 CEP290 CC2D2A
37 short-rib thoracic dysplasia 6 with or without polydactyly 9.9 TTC21B TMEM67 TMEM216
38 polycystic liver disease 9.8 TMEM67 NEK8 INVS
39 johanson-blizzard syndrome 9.8 TMEM216 RPGRIP1L CEP290 CC2D2A
40 arima syndrome 9.8 TMEM216 NPHP4 CEP290 CC2D2A
41 cogan syndrome 9.7 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A
42 bardet-biedl syndrome 6 9.7 SDCCAG8 RPGRIP1L INVS CEP290
43 meckel syndrome, type 8 9.7 TMEM67 TMEM216 RPGRIP1L NPHP3 CC2D2A
44 joubert syndrome 10 9.7 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
45 joubert syndrome 9 9.7 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
46 end stage renal disease 9.6 NPHP4 NEK8 INVS
47 eye disease 9.6 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
48 neural tube defects 9.6 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
49 right atrial isomerism 9.5 NEK8 INVS
50 polydactyly 9.5 TTC21B TMEM67 SDCCAG8 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 nystagmus 31 occasional (7.5%) HP:0000639
2 global developmental delay 31 occasional (7.5%) HP:0001263
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 psychomotor retardation 31 HP:0025356
12 stage 5 chronic kidney disease 31 HP:0003774
13 renal tubular atrophy 31 HP:0000092
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Nephronophthisis 11:


polydipsia; polyuria

MGI Mouse Phenotypes related to Nephronophthisis 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CC2D2A CEP290 INVS NPHP1 NPHP3 NPHP4
2 cardiovascular system MP:0005385 10.09 CC2D2A CEP290 INVS NEK8 NEK9 NPHP3
3 craniofacial MP:0005382 9.91 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
4 mortality/aging MP:0010768 9.9 CC2D2A CEP290 INVS IQCB1 NEK8 NEK9
5 digestive/alimentary MP:0005381 9.8 CC2D2A INVS NEK8 RPGRIP1L SDCCAG8 TMEM67
6 embryo MP:0005380 9.8 CC2D2A INVS NEK9 NPHP3 RPGRIP1L TMEM67
7 nervous system MP:0003631 9.61 CC2D2A CEP290 NPHP1 NPHP3 NPHP4 RPGRIP1L
8 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
Liver, Kidney, Eye

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). 57 6 61
19508969 2009
2
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
3
Congenital hepatic fibrosis and nephronophthisis. A family study. 57
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 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM67 NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) SNV Pathogenic 1382 rs267607116 GRCh37: 8:94821089-94821089
GRCh38: 8:93808861-93808861
2 TMEM67 NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu) SNV Pathogenic 1384 rs267607117 GRCh37: 8:94792975-94792975
GRCh38: 8:93780747-93780747
3 TMEM67 NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) SNV Pathogenic 1385 rs267607116 GRCh37: 8:94821089-94821089
GRCh38: 8:93808861-93808861
4 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) SNV Pathogenic 217726 rs863225235 GRCh37: 8:94794672-94794672
GRCh38: 8:93782444-93782444
5 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
6 TMEM67 NM_153704.6(TMEM67):c.1057_1065+2del Deletion Pathogenic 974545 GRCh37: 8:94793960-94793970
GRCh38: 8:93781732-93781742
7 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
8 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
9 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) SNV Likely pathogenic 56762 rs386834180 GRCh37: 8:94793953-94793953
GRCh38: 8:93781725-93781725
10 TMEM67 NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) SNV Likely pathogenic 219997 rs138783896 GRCh37: 8:94777644-94777644
GRCh38: 8:93765416-93765416
11 TMEM67 NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) SNV Likely pathogenic 974546 GRCh37: 8:94777678-94777678
GRCh38: 8:93765450-93765450
12 TMEM67 NM_153704.6(TMEM67):c.*25C>T SNV Uncertain significance 914980 GRCh37: 8:94828705-94828705
GRCh38: 8:93816477-93816477
13 TMEM67 NM_153704.6(TMEM67):c.*822G>A SNV Uncertain significance 914509 GRCh37: 8:94829502-94829502
GRCh38: 8:93817274-93817274
14 TMEM67 NM_153704.6(TMEM67):c.2764+10A>T SNV Uncertain significance 911073 GRCh37: 8:94822125-94822125
GRCh38: 8:93809897-93809897
15 TMEM67 NM_153704.6(TMEM67):c.*690T>A SNV Uncertain significance 914507 GRCh37: 8:94829370-94829370
GRCh38: 8:93817142-93817142
16 TMEM67 NM_153704.6(TMEM67):c.*761T>G SNV Uncertain significance 914508 GRCh37: 8:94829441-94829441
GRCh38: 8:93817213-93817213
17 TMEM67 NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) SNV Uncertain significance 912110 GRCh37: 8:94777666-94777666
GRCh38: 8:93765438-93765438
18 TMEM67 NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) SNV Uncertain significance 449519 rs202036490 GRCh37: 8:94784818-94784818
GRCh38: 8:93772590-93772590
19 TMEM67 NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) SNV Uncertain significance 912174 GRCh37: 8:94805438-94805438
GRCh38: 8:93793210-93793210
20 TMEM67 NM_153704.6(TMEM67):c.2242-7G>A SNV Uncertain significance 912244 GRCh37: 8:94815825-94815825
GRCh38: 8:93803597-93803597
21 TMEM67 NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) SNV Uncertain significance 912245 GRCh37: 8:94815868-94815868
GRCh38: 8:93803640-93803640
22 TMEM67 NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) SNV Uncertain significance 908240 GRCh37: 8:94815881-94815881
GRCh38: 8:93803653-93803653
23 TMEM67 NM_153704.6(TMEM67):c.*1099A>G SNV Uncertain significance 912309 GRCh37: 8:94829779-94829779
GRCh38: 8:93817551-93817551
24 TMEM67 NM_153704.6(TMEM67):c.*279T>C SNV Uncertain significance 913024 GRCh37: 8:94828959-94828959
GRCh38: 8:93816731-93816731
25 TMEM67 NM_153704.6(TMEM67):c.2907+9T>C SNV Uncertain significance 913346 GRCh37: 8:94827684-94827684
GRCh38: 8:93815456-93815456
26 TMEM67 NM_153704.6(TMEM67):c.*512T>C SNV Uncertain significance 913394 GRCh37: 8:94829192-94829192
GRCh38: 8:93816964-93816964
27 TMEM67 NM_153704.6(TMEM67):c.*580A>G SNV Uncertain significance 913395 GRCh37: 8:94829260-94829260
GRCh38: 8:93817032-93817032
28 TMEM67 NM_153704.6(TMEM67):c.*1424C>A SNV Uncertain significance 913429 GRCh37: 8:94830104-94830104
GRCh38: 8:93817876-93817876
29 TMEM67 NC_000008.11:g.93818128C>T SNV Uncertain significance 913810 GRCh37: 8:94830356-94830356
GRCh38: 8:93818128-93818128
30 TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) SNV Uncertain significance 1377 rs111619594 GRCh37: 8:94793190-94793190
GRCh38: 8:93780962-93780962
31 TMEM67 NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) SNV Uncertain significance 497917 rs370004832 GRCh37: 8:94809607-94809607
GRCh38: 8:93797379-93797379
32 TMEM67 NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) SNV Uncertain significance 908168 GRCh37: 8:94808136-94808136
GRCh38: 8:93795908-93795908
33 TMEM67 NM_153704.6(TMEM67):c.186T>C (p.Cys62=) SNV Uncertain significance 215970 rs115660279 GRCh37: 8:94767328-94767328
GRCh38: 8:93755100-93755100
34 TMEM67 NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) SNV Uncertain significance 363917 rs886063170 GRCh37: 8:94767219-94767219
GRCh38: 8:93754991-93754991
35 TMEM67 NM_001142301.1(TMEM67):c.*941T>C SNV Uncertain significance 363935 rs112317911 GRCh37: 8:94829621-94829621
GRCh38: 8:93817393-93817393
36 TMEM67 NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) SNV Uncertain significance 363923 rs201949664 GRCh37: 8:94815889-94815889
GRCh38: 8:93803661-93803661
37 TMEM67 NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) SNV Uncertain significance 661970 rs375991767 GRCh37: 8:94798541-94798541
GRCh38: 8:93786313-93786313
38 TMEM67 NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) SNV Uncertain significance 910124 GRCh37: 8:94809574-94809574
GRCh38: 8:93797346-93797346
39 TMEM67 NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) SNV Uncertain significance 909996 GRCh37: 8:94768051-94768051
GRCh38: 8:93755823-93755823
40 TMEM67 NM_153704.6(TMEM67):c.282T>C (p.Ala94=) SNV Uncertain significance 910884 GRCh37: 8:94768064-94768064
GRCh38: 8:93755836-93755836
41 TMEM67 NM_153704.6(TMEM67):c.369C>T (p.Ala123=) SNV Uncertain significance 286625 rs115640152 GRCh37: 8:94770767-94770767
GRCh38: 8:93758539-93758539
42 TMEM67 NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) SNV Uncertain significance 217729 rs863225238 GRCh37: 8:94809684-94809684
GRCh38: 8:93797456-93797456
43 TMEM67 NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) SNV Uncertain significance 126302 rs116445698 GRCh37: 8:94811906-94811906
GRCh38: 8:93799678-93799678
44 TMEM67 NM_001142301.1(TMEM67):c.*1434T>C SNV Uncertain significance 363937 rs886063178 GRCh37: 8:94830114-94830114
GRCh38: 8:93817886-93817886
45 TMEM67 NM_001142301.1(TMEM67):c.*300G>A SNV Uncertain significance 363932 rs886063176 GRCh37: 8:94828980-94828980
GRCh38: 8:93816752-93816752
46 TMEM67 NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) SNV Uncertain significance 363920 rs774288177 GRCh37: 8:94800105-94800105
GRCh38: 8:93787877-93787877
47 TMEM67 NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) SNV Uncertain significance 363919 rs199708882 GRCh37: 8:94767279-94767279
GRCh38: 8:93755051-93755051
48 TMEM67 NM_153704.6(TMEM67):c.120T>C (p.Ser40=) SNV Uncertain significance 262741 rs767999682 GRCh37: 8:94767262-94767262
GRCh38: 8:93755034-93755034
49 TMEM67 NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) SNV Uncertain significance 363928 rs369812327 GRCh37: 8:94828620-94828620
GRCh38: 8:93816392-93816392
50 TMEM67 NM_001142301.1(TMEM67):c.2313+4T>G SNV Uncertain significance 363924 rs772449181 GRCh37: 8:94821188-94821188
GRCh38: 8:93808960-93808960

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

72
# 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 9.4 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.7 NPHP4 NPHP3 INVS
2 cilium assembly GO:0060271 9.7 TMEM67 TMEM216 RPGRIP1L NPHP3 IQCB1 CEP290
3 kidney development GO:0001822 9.67 RPGRIP1L NPHP3 CC2D2A
4 determination of left/right symmetry GO:0007368 9.56 RPGRIP1L NPHP3 NEK8 CC2D2A
5 non-motile cilium assembly GO:1905515 9.54 TMEM216 RPGRIP1L CC2D2A
6 regulation of smoothened signaling pathway GO:0008589 9.51 TTC21B RPGRIP1L
7 photoreceptor cell maintenance GO:0045494 9.5 NPHP4 NPHP3 IQCB1
8 cell projection organization GO:0030030 9.5 TMEM67 TMEM216 SDCCAG8 NPHP1 IQCB1 CEP290
9 protein localization to ciliary transition zone GO:1904491 9.48 NPHP4 CC2D2A
10 positive regulation of bicellular tight junction assembly GO:1903348 9.46 NPHP4 NPHP1
11 maintenance of animal organ identity GO:0048496 9.43 NPHP3 IQCB1
12 visual behavior GO:0007632 9.4 NPHP4 NPHP1
13 ciliary basal body-plasma membrane docking GO:0097711 9.28 TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP1

Sources for Nephronophthisis 11

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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