NPHP12
MCID: NPH067
MIFTS: 43

Nephronophthisis 12 (NPHP12)

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

Aliases & Classifications for Nephronophthisis 12

MalaCards integrated aliases for Nephronophthisis 12:

Name: Nephronophthisis 12 57 12 72 29 13 6 15 70
Joubert Syndrome 11 72 29 70
Nphp12 57 12 72
Nephronophthisis, Type 12 39
Jbts11 72

Characteristics:

OMIM®:

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

Miscellaneous:
three patients classified as having joubert syndrome had heterozygous mutations in ttc21b, no detailed clinical information was provided
four families classified as having nephronophthisis had either homozygous or compound heterozygous ttc21b mutations, no detailed clinical information was provided


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0111119
OMIM® 57 613820
OMIM Phenotypic Series 57 PS256100
UMLS 70 C3151186 C3279203

Summaries for Nephronophthisis 12

UniProtKB/Swiss-Prot : 72 Joubert syndrome 11: 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). Additional variable features include retinal dystrophy and renal disease.
Nephronophthisis 12: An autosomal recessive disorder resulting in end-stage renal disease. It 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. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.

MalaCards based summary : Nephronophthisis 12, also known as joubert syndrome 11, is related to ciliopathy and nephronophthisis. An important gene associated with Nephronophthisis 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), 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 nephronophthisis and stage 5 chronic kidney disease

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

More information from OMIM: 613820 PS256100

Related Diseases for Nephronophthisis 12

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 29.4 TTC21B SDCCAG8 RPGRIP1L NPHP4 CEP41 CEP290
2 nephronophthisis 25.6 WDR19 TTC21B-AS1 TTC21B TMEM237 TMEM138 SDCCAG8
3 congenital nephrotic syndrome finnish type 10.3 TTC21B-AS1 TTC21B
4 short-rib thoracic dysplasia 7 with or without polydactyly 10.3 WDR19 TTC21B
5 retinal ciliopathy 10.2 IQCB1 CEP290
6 short-rib thoracic dysplasia 4 with or without polydactyly 10.2 WDR19 TTC21B-AS1 TTC21B
7 simpson-golabi-behmel syndrome, type 2 10.2 SDCCAG8 CEP290
8 nephrotic syndrome, type 1 10.2 TTC21B-AS1 TTC21B
9 leber congenital amaurosis 13 10.2 IQCB1 CEP290
10 joubert syndrome 10 10.1 RPGRIP1L NPHP1
11 leber congenital amaurosis 10 10.1 IQCB1 CEP290
12 renal dysplasia, cystic 10.1 NPHP3 CEP290
13 proteinuria, chronic benign 10.1
14 end stage renal disease 10.1
15 cone-rod dystrophy 13 10.1 RPGRIP1L NPHP4 IQCB1
16 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
17 nephronophthisis 4 10.1 NPHP4 NPHP1
18 polydactyly 10.1 WDR19 TTC21B SDCCAG8 CEP290
19 short-rib thoracic dysplasia 2 with or without polydactyly 10.1 WDR19 TTC21B
20 leber congenital amaurosis 4 10.1 IQCB1 CEP290
21 bardet-biedl syndrome 11 10.0 SDCCAG8 RPGRIP1L CEP290
22 joubert syndrome 20 10.0 TMEM237 NPHP4
23 joubert syndrome 6 10.0 RPGRIP1L NPHP1 CEP290
24 polycystic kidney disease 2 with or without polycystic liver disease 10.0 NPHP4 NEK9 NEK8 INVS
25 joubert syndrome 21 10.0 CEP41 CEP164
26 caroli disease 10.0 WDR19 NPHP3 NPHP1 INVS
27 bardet-biedl syndrome 1 10.0 SDCCAG8 NPHP4 NPHP1 CEP290
28 focal segmental glomerulosclerosis 10.0
29 situs inversus 10.0
30 bardet-biedl syndrome 14 10.0 SDCCAG8 RPGRIP1L IQCB1 CEP290
31 joubert syndrome 9 10.0 RPGRIP1L CEP41 CEP290
32 joubert syndrome 13 9.9 TTC21B RPGRIP1L NPHP1 CEP290
33 bardet-biedl syndrome 6 9.9 SDCCAG8 RPGRIP1L INVS CEP290
34 spinocerebellar ataxia 11 9.9 CEP83 CEP164
35 cogan syndrome 9.9 RPGRIP1L NPHP4 NPHP1 CEP290
36 tubulointerstitial kidney disease, autosomal dominant, 1 9.9 NPHP4 NPHP1
37 orofaciodigital syndrome 9.9 CEP83 CEP290 CEP164
38 johanson-blizzard syndrome 9.9 TMEM138 RPGRIP1L CEP290
39 joubert syndrome 8 9.9 RPGRIP1L NPHP3 NPHP1 CEP290
40 encephalocele 9.8 CEP290 B9D2
41 orofaciodigital syndrome i 9.8 CEP83 CEP290 CEP164
42 ellis-van creveld syndrome 9.8 WDR19 TTC21B RPGRIP1L INVS CEP290
43 joubert syndrome 24 9.8 RPGRIP1L NPHP1 CEP290 CEP164
44 kidney disease 9.7 TTC21B NPHP4 NPHP3 NPHP1 NEK8 CEP290
45 eye disease 9.7 WDR19 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
46 retinal aplasia 9.7 TTC21B-AS1 TTC21B SDCCAG8 NPHP4 NPHP1 IQCB1
47 joubert syndrome 14 9.7 TMEM237 NPHP4 B9D2
48 alstrom syndrome 9.6 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
49 arima syndrome 9.6 TMEM237 TMEM138 NPHP4 CEP290
50 meckel syndrome, type 7 9.6 TMEM237 NPHP3 B9D2

Graphical network of the top 20 diseases related to Nephronophthisis 12:



Diseases related to Nephronophthisis 12

Symptoms & Phenotypes for Nephronophthisis 12

Human phenotypes related to Nephronophthisis 12:

31
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 31 HP:0000090
2 stage 5 chronic kidney disease 31 HP:0003774

Clinical features from OMIM®:

613820 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 B9D2 CEP290 CEP41 CEP83 INVS NEK8
2 cellular MP:0005384 10.13 B9D2 CEP290 INVS NPHP1 NPHP3 NPHP4
3 mortality/aging MP:0010768 10.13 B9D2 CEP164 CEP290 CEP41 CEP83 INVS
4 growth/size/body region MP:0005378 10.1 B9D2 CEP290 CEP83 INVS NEK8 NPHP3
5 embryo MP:0005380 10.02 B9D2 CEP41 CEP83 INVS NEK9 NPHP3
6 craniofacial MP:0005382 9.95 B9D2 CEP290 NPHP3 RPGRIP1L SDCCAG8 TTC21B
7 nervous system MP:0003631 9.9 B9D2 CEP290 CEP41 NPHP1 NPHP3 NPHP4
8 renal/urinary system MP:0005367 9.65 B9D2 CEP290 INVS NEK8 NPHP1 NPHP3
9 vision/eye MP:0005391 9.23 B9D2 CEP290 NPHP1 NPHP4 RPGRIP1L SDCCAG8

Drugs & Therapeutics for Nephronophthisis 12

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 12

Genetic Tests for Nephronophthisis 12

Genetic tests related to Nephronophthisis 12:

# Genetic test Affiliating Genes
1 Nephronophthisis 12 29 TTC21B
2 Joubert Syndrome 11 29

Anatomical Context for Nephronophthisis 12

MalaCards organs/tissues related to Nephronophthisis 12:

40
Liver, Kidney, Eye

Publications for Nephronophthisis 12

Articles related to Nephronophthisis 12:

# Title Authors PMID Year
1
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 57 6
21258341 2011
2
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
3
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 6
26940125 2017
4
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 6
24876116 2014
5
A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12. 61
32714622 2020
6
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. 61
27515926 2016
7
Children with chronic renal failure in the Federal Republic of Germany: II. Primary renal diseases, age and intervals from early renal failure to renal death. Arbeitsgemeinschaft für Pädiatrische Nephrologie. 61
4028524 1985

Variations for Nephronophthisis 12

ClinVar genetic disease variations for Nephronophthisis 12:

6 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC21B NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter) SNV Pathogenic 30936 rs387907059 GRCh37: 2:166775804-166775804
GRCh38: 2:165919294-165919294
2 TTC21B NM_024753.5(TTC21B):c.2758-2A>G SNV Pathogenic 30937 rs766132877 GRCh37: 2:166756392-166756392
GRCh38: 2:165899882-165899882
3 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
4 TTC21B NM_024753.5(TTC21B):c.20_21insCG (p.Lys7fs) Insertion Pathogenic 998386 GRCh37: 2:166810195-166810196
GRCh38: 2:165953685-165953686
5 TTC21B NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) SNV Pathogenic 446649 rs79746977 GRCh37: 2:166764256-166764256
GRCh38: 2:165907746-165907746
6 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.370_380del (p.His124fs) Deletion Pathogenic 811342 rs1237271536 GRCh37: 2:166802083-166802093
GRCh38: 2:165945573-165945583
7 TTC21B NM_024753.5(TTC21B):c.1176_1185+1del Deletion Pathogenic 917962 GRCh37: 2:166786159-166786169
GRCh38: 2:165929649-165929659
8 TTC21B NM_024753.5(TTC21B):c.3523C>T (p.Arg1175Ter) SNV Pathogenic 1034076 GRCh37: 2:166740465-166740465
GRCh38: 2:165883955-165883955
9 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic/Likely pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
10 TTC21B NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) SNV Uncertain significance 130656 rs140384742 GRCh37: 2:166737197-166737197
GRCh38: 2:165880687-165880687
11 TTC21B NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) SNV Uncertain significance 893328 GRCh37: 2:166740488-166740488
GRCh38: 2:165883978-165883978
12 TTC21B NM_024753.5(TTC21B):c.*1117A>G SNV Uncertain significance 893038 GRCh37: 2:166730148-166730148
GRCh38: 2:165873638-165873638
13 TTC21B NM_024753.5(TTC21B):c.*1107A>G SNV Uncertain significance 893039 GRCh37: 2:166730158-166730158
GRCh38: 2:165873648-165873648
14 TTC21B NM_024753.5(TTC21B):c.3874-14T>C SNV Uncertain significance 508884 rs200347449 GRCh37: 2:166731356-166731356
GRCh38: 2:165874846-165874846
15 TTC21B NM_024753.5(TTC21B):c.3805+13A>G SNV Uncertain significance 893114 GRCh37: 2:166737176-166737176
GRCh38: 2:165880666-165880666
16 TTC21B NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) SNV Uncertain significance 893149 GRCh37: 2:166756318-166756318
GRCh38: 2:165899808-165899808
17 TTC21B NM_024753.5(TTC21B):c.*1104G>A SNV Uncertain significance 893252 GRCh37: 2:166730161-166730161
GRCh38: 2:165873651-165873651
18 TTC21B NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) SNV Uncertain significance 893419 GRCh37: 2:166775885-166775885
GRCh38: 2:165919375-165919375
19 TTC21B NM_024753.5(TTC21B):c.1563C>T (p.His521=) SNV Uncertain significance 893420 GRCh37: 2:166775897-166775897
GRCh38: 2:165919387-165919387
20 TTC21B NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) SNV Uncertain significance 698699 rs756913474 GRCh37: 2:166789493-166789493
GRCh38: 2:165932983-165932983
21 TTC21B NM_024753.5(TTC21B):c.783G>T (p.Gly261=) SNV Uncertain significance 528909 rs200255917 GRCh37: 2:166789495-166789495
GRCh38: 2:165932985-165932985
22 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) SNV Uncertain significance 198257 rs149925563 GRCh37: 2:166797556-166797556
GRCh38: 2:165941046-165941046
23 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) SNV Uncertain significance 893757 GRCh37: 2:166797562-166797562
GRCh38: 2:165941052-165941052
24 TTC21B NM_024753.5(TTC21B):c.-24C>T SNV Uncertain significance 506599 rs554218980 GRCh37: 2:166810239-166810239
GRCh38: 2:165953729-165953729
25 TTC21B NM_024753.5(TTC21B):c.-44G>A SNV Uncertain significance 893787 GRCh37: 2:166810259-166810259
GRCh38: 2:165953749-165953749
26 TTC21B NM_024753.5(TTC21B):c.*926C>A SNV Uncertain significance 894108 GRCh37: 2:166730339-166730339
GRCh38: 2:165873829-165873829
27 TTC21B NM_024753.5(TTC21B):c.*424A>G SNV Uncertain significance 894136 GRCh37: 2:166730841-166730841
GRCh38: 2:165874331-165874331
28 TTC21B NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) SNV Uncertain significance 704197 rs767037992 GRCh37: 2:166744798-166744798
GRCh38: 2:165888288-165888288
29 TTC21B NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) SNV Uncertain significance 216768 rs34925776 GRCh37: 2:166747029-166747029
GRCh38: 2:165890519-165890519
30 TTC21B NM_024753.5(TTC21B):c.3101+9A>G SNV Uncertain significance 894166 GRCh37: 2:166747339-166747339
GRCh38: 2:165890829-165890829
31 TTC21B NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) SNV Uncertain significance 698383 rs190101048 GRCh37: 2:166758420-166758420
GRCh38: 2:165901910-165901910
32 TTC21B NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) SNV Uncertain significance 281236 rs766811699 GRCh37: 2:166764226-166764226
GRCh38: 2:165907716-165907716
33 TTC21B NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) SNV Uncertain significance 894260 GRCh37: 2:166781143-166781143
GRCh38: 2:165924633-165924633
34 TTC21B NM_024753.5(TTC21B):c.*681G>A SNV Uncertain significance 894502 GRCh37: 2:166730584-166730584
GRCh38: 2:165874074-165874074
35 TTC21B NM_024753.5(TTC21B):c.*360C>A SNV Uncertain significance 894540 GRCh37: 2:166730905-166730905
GRCh38: 2:165874395-165874395
36 TTC21B NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) SNV Uncertain significance 219735 rs139327086 GRCh37: 2:166731284-166731284
GRCh38: 2:165874774-165874774
37 TTC21B NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) SNV Uncertain significance 894573 GRCh37: 2:166747446-166747446
GRCh38: 2:165890936-165890936
38 TTC21B NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val) SNV Uncertain significance 894574 GRCh37: 2:166747466-166747466
GRCh38: 2:165890956-165890956
39 TTC21B NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) SNV Uncertain significance 894575 GRCh37: 2:166755243-166755243
GRCh38: 2:165898733-165898733
40 TTC21B NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) SNV Uncertain significance 446691 rs574017249 GRCh37: 2:166758296-166758296
GRCh38: 2:165901786-165901786
41 TTC21B NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val) SNV Uncertain significance 893391 GRCh37: 2:166771765-166771765
GRCh38: 2:165915255-165915255
42 TTC21B NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) SNV Uncertain significance 894628 GRCh37: 2:166773984-166773984
GRCh38: 2:165917474-165917474
43 TTC21B NM_024753.5(TTC21B):c.1677G>C (p.Val559=) SNV Uncertain significance 700527 rs149842503 GRCh37: 2:166773989-166773989
GRCh38: 2:165917479-165917479
44 TTC21B NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) SNV Uncertain significance 894651 GRCh37: 2:166786164-166786164
GRCh38: 2:165929654-165929654
45 TTC21B NM_024753.5(TTC21B):c.1116G>T (p.Gly372=) SNV Uncertain significance 894652 GRCh37: 2:166786229-166786229
GRCh38: 2:165929719-165929719
46 TTC21B NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) SNV Uncertain significance 649177 rs141240501 GRCh37: 2:166788282-166788282
GRCh38: 2:165931772-165931772
47 TTC21B NM_024753.5(TTC21B):c.876A>G (p.Thr292=) SNV Uncertain significance 696276 rs185247361 GRCh37: 2:166788286-166788286
GRCh38: 2:165931776-165931776
48 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.338A>G (p.His113Arg) SNV Uncertain significance 894674 GRCh37: 2:166802125-166802125
GRCh38: 2:165945615-165945615
49 TTC21B NM_024753.5(TTC21B):c.256A>C (p.Asn86His) SNV Uncertain significance 894675 GRCh37: 2:166805910-166805910
GRCh38: 2:165949400-165949400
50 TTC21B NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) SNV Uncertain significance 992903 GRCh37: 2:166755204-166755204
GRCh38: 2:165898694-165898694

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 12:

72
# Symbol AA change Variation ID SNP ID
1 TTC21B p.Trp150Arg VAR_065516
2 TTC21B p.Pro209Leu VAR_065518 rs140511594
3 TTC21B p.Thr231Ser VAR_065520 rs149925563
4 TTC21B p.Ser591Asn VAR_065530
5 TTC21B p.Arg867Cys VAR_065539 rs746700857
6 TTC21B p.Tyr1167Cys VAR_065549 rs104087701
7 TTC21B p.Met1186Val VAR_065550 rs376308209
8 TTC21B p.Met1011Thr VAR_068172 rs777427926

Expression for Nephronophthisis 12

Search GEO for disease gene expression data for Nephronophthisis 12.

Pathways for Nephronophthisis 12

GO Terms for Nephronophthisis 12

Cellular components related to Nephronophthisis 12 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.37 WDR19 TTC21B SDCCAG8 RPGRIP1L NPHP4 NPHP1
2 cytosol GO:0005829 10.34 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK9
3 cytoskeleton GO:0005856 10.1 WDR19 TTC21B SDCCAG8 RPGRIP1L NPHP4 NPHP1
4 centrosome GO:0005813 10.02 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8 IQCB1
5 microtubule organizing center GO:0005815 10 SDCCAG8 RPGRIP1L NPHP4 NEK8 IQCB1 CEP41
6 ciliary basal body GO:0036064 9.91 SDCCAG8 RPGRIP1L NPHP4 CEP41 CEP290 B9D2
7 centriole GO:0005814 9.88 SDCCAG8 IQCB1 CEP83 CEP41 CEP290 CEP164
8 cell-cell junction GO:0005911 9.81 SDCCAG8 RPGRIP1L NPHP4 NPHP1
9 cell projection GO:0042995 9.8 WDR19 TTC21B TMEM237 TMEM138 SDCCAG8 RPGRIP1L
10 ciliary transition zone GO:0035869 9.77 TMEM237 RPGRIP1L NPHP4 CEP290 B9D2
11 bicellular tight junction GO:0005923 9.74 RPGRIP1L NPHP4 NPHP1
12 photoreceptor connecting cilium GO:0032391 9.7 WDR19 TMEM237 RPGRIP1L NPHP4 NPHP1 IQCB1
13 MKS complex GO:0036038 9.55 CEP290 B9D2
14 ciliary transition fiber GO:0097539 9.54 CEP83 CEP164
15 intraciliary transport particle A GO:0030991 9.52 WDR19 TTC21B
16 ciliary inversin compartment GO:0097543 9.48 NEK8 INVS
17 cilium GO:0005929 9.47 WDR19 TTC21B TMEM237 TMEM138 RPGRIP1L NPHP4

Biological processes related to Nephronophthisis 12 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 SDCCAG8 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP83
2 cilium assembly GO:0060271 9.7 WDR19 TMEM237 TMEM138 RPGRIP1L NPHP3 IQCB1
3 determination of left/right symmetry GO:0007368 9.65 RPGRIP1L NPHP3 NEK8
4 G2/M transition of mitotic cell cycle GO:0000086 9.62 SDCCAG8 CEP41 CEP290 CEP164
5 photoreceptor cell maintenance GO:0045494 9.58 NPHP4 NPHP3 IQCB1
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.56 SDCCAG8 CEP41 CEP290 CEP164
7 regulation of smoothened signaling pathway GO:0008589 9.51 TTC21B RPGRIP1L
8 intraciliary retrograde transport GO:0035721 9.49 WDR19 TTC21B
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 cell projection organization GO:0030030 9.36 WDR19 TMEM237 TMEM138 SDCCAG8 NPHP1 IQCB1

Sources for Nephronophthisis 12

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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