JBTS7
MCID: JBR011
MIFTS: 46

Joubert Syndrome 7 (JBTS7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Name: Joubert Syndrome 7 57 12 73 29 13 6 44 15 71
Jbts7 57 12 73
Cerebello-Oculo-Renal Syndrome 3 73
Joubert Syndrome, Type 7 39
Cors3 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
renal phenotype worsens with age
see also meckel syndrome type 5 , an allelic disorder with a more severe phenotype


HPO:

31
joubert syndrome 7:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : 73 Joubert syndrome 7: 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.

MalaCards based summary : Joubert Syndrome 7, also known as jbts7, is related to cone-rod dystrophy 13 and retinal ciliopathy, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2.

More information from OMIM: 611560 PS213300

Related Diseases for Joubert Syndrome 7

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35 Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 13 10.3 RPGRIP1L RPGRIP1
2 retinal ciliopathy 10.2 RPGRIP1 CEP290
3 leber congenital amaurosis 10 10.2 RPGRIP1 CEP290
4 leber congenital amaurosis 3 10.2 RPGRIP1 CEP290
5 leber congenital amaurosis 4 10.2 RPGRIP1 CEP290
6 caroli disease 10.2 PKD2 NPHP1
7 nephronophthisis 4 10.2 RPGRIP1 NPHP1
8 retinal aplasia 10.1 NPHP1 CEP290
9 alstrom syndrome 10.1 RPGRIP1L CEP290
10 renal-hepatic-pancreatic dysplasia 10.1 NPHP1 CEP290
11 polycystic liver disease 1 with or without kidney cysts 10.1 PKD2 NPHP1
12 oculomotor apraxia 10.1 NPHP1 AHI1
13 joubert syndrome 15 10.0 RPGRIP1L NPHP1 CC2D2A
14 orofaciodigital syndrome 10.0 TMEM67 TMEM216 CEP290
15 enophthalmos 10.0 CEP290 AHI1
16 bardet-biedl syndrome 13 10.0 MKS1 CEP290
17 bardet-biedl syndrome 16 10.0 MKS1 CEP290
18 bardet-biedl syndrome 8 10.0 MKS1 CEP290
19 arima syndrome 9.9 TMEM216 CEP290 CC2D2A
20 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
21 bardet-biedl syndrome 11 9.9 RPGRIP1L MKS1 CEP290
22 bardet-biedl syndrome 6 9.9 RPGRIP1L MKS1 CEP290
23 leber congenital amaurosis 6 9.9 RPGRIP1 MKS1 CEP290
24 oligohydramnios 9.9 TMEM67 MKS1 CC2D2A
25 juvenile nephronophthisis 9.9 TMEM67 NPHP1 CEP290
26 nephronophthisis 16 9.9 TMEM67 RPGRIP1L NPHP1 CEP290
27 bardet-biedl syndrome 3 9.9 MKS1 CEP290
28 leber congenital amaurosis 2 9.9 RPGRIP1 CEP290
29 short-rib thoracic dysplasia 6 with or without polydactyly 9.9 TRAF3IP1 TMEM67 TMEM216
30 cone dystrophy 9.9 RPGRIP1 CEP290 CC2D2A
31 johanson-blizzard syndrome 9.8 TMEM216 RPGRIP1L CEP290 CC2D2A
32 retinitis pigmentosa 2 9.8 CEP290 ARL13B
33 acrocallosal syndrome 9.8 TMEM216 RPGRIP1L NPHP1 AHI1
34 pathologic nystagmus 9.7 TMEM67 RPGRIP1 MKS1 CEP290
35 retinal degeneration 9.7 TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
36 nephronophthisis 19 9.7 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
37 cogan syndrome 9.7 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
38 polycystic kidney disease 2 with or without polycystic liver disease 9.6 TMEM67 PKD2 MKS1 ARL13B
39 apraxia 9.6 TMEM67 NPHP1 CEP290 CC2D2A AHI1
40 polycystic kidney disease 9.6 TMEM67 PKD2 MKS1 CEP290 CC2D2A
41 physical disorder 9.6 TMEM67 MKS1 CEP290 ARL13B
42 ciliopathy 9.6 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
43 nephronophthisis 12 9.6 RPGRIP1L NPHP1 CEP290 B9D2
44 joubert syndrome 24 9.6 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
45 joubert syndrome 14 9.5 TMEM216 RPGRIP1L NPHP1 B9D2
46 kidney disease 9.5 TMEM67 PKD2 NPHP1 CEP290 CC2D2A AHI1
47 eye disease 9.5 TRAF3IP1 RPGRIP1 NPHP1 CEP290 AHI1
48 nephronophthisis 11 9.5 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49 bardet-biedl syndrome 1 9.4 TMEM67 TMEM216 NPHP1 MKS1 CEP290
50 ellis-van creveld syndrome 9.4 TRAF3IP1 TMEM216 RPGRIP1L CEP290 ARL13B

Graphical network of the top 20 diseases related to Joubert Syndrome 7:



Diseases related to Joubert Syndrome 7

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 ptosis 31 HP:0000508
4 nystagmus 31 HP:0000639
5 ataxia 31 HP:0001251
6 global developmental delay 31 HP:0001263
7 nephronophthisis 31 HP:0000090
8 postaxial hand polydactyly 31 HP:0001162
9 encephalocele 31 HP:0002084
10 retinal dystrophy 31 HP:0000556
11 molar tooth sign on mri 31 HP:0002419
12 renal cyst 31 HP:0000107
13 oculomotor apraxia 31 HP:0000657
14 generalized hypotonia 31 HP:0001290
15 central apnea 31 HP:0002871
16 episodic tachypnea 31 HP:0002876
17 abnormal corpus callosum morphology 31 HP:0001273
18 brainstem dysplasia 31 HP:0002508
19 hypoplasia of the brainstem 31 HP:0002365
20 neonatal breathing dysregulation 31 HP:0002790

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
mental retardation
more
Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Head And Neck Eyes:
ptosis
nystagmus
oculomotor apraxia
abnormal eye movements
retinal dystrophy (less common)

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM®:

611560 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 7:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
2 embryo MP:0005380 10.03 ARL13B B9D2 CC2D2A MKS1 PKD2 RPGRIP1L
3 mortality/aging MP:0010768 10.02 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
4 nervous system MP:0003631 10 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
5 craniofacial MP:0005382 9.95 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
6 digestive/alimentary MP:0005381 9.93 B9D2 CC2D2A MKS1 PKD2 RPGRIP1L TMEM67
7 limbs/digits/tail MP:0005371 9.88 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67 TRAF3IP1
8 liver/biliary system MP:0005370 9.85 B9D2 CEP290 MKS1 PKD2 RPGRIP1L TMEM67
9 renal/urinary system MP:0005367 9.85 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
10 respiratory system MP:0005388 9.5 ARL13B B9D2 CC2D2A CEP290 MKS1 PKD2
11 vision/eye MP:0005391 9.32 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

# Genetic test Affiliating Genes
1 Joubert Syndrome 7 29 RPGRIP1L

Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

40
Eye, Brain

Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

# Title Authors PMID Year
1
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 6 57
18565097 2008
2
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 6 57
17558407 2007
3
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6 57
17558409 2007

Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

6 (show top 50) (show all 159)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGRIP1L NM_015272.5(RPGRIP1L):c.2305-1G>A SNV Pathogenic 217690 rs863225215 16:53679916-53679916 16:53646004-53646004
2 RPGRIP1L NM_015272.5(RPGRIP1L):c.1243+1G>A SNV Pathogenic 217693 rs863225218 16:53698781-53698781 16:53664869-53664869
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) SNV Pathogenic 1079 rs145665129 16:53679807-53679807 16:53645895-53645895
4 RPGRIP1L NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) Deletion Pathogenic 217691 rs863225216 16:53686878-53686878 16:53652966-53652966
5 RPGRIP1L NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) SNV Pathogenic 217694 rs778533826 16:53653024-53653024 16:53619112-53619112
6 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) Duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
7 RPGRIP1L NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) Deletion Pathogenic 217692 rs863225217 16:53698893-53698893 16:53664981-53664981
8 RPGRIP1L NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) SNV Pathogenic 1080 rs267607020 16:53686624-53686624 16:53652712-53652712
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.3701+1G>T SNV Pathogenic 217695 rs863225219 16:53644878-53644878 16:53610966-53610966
10 RPGRIP1L NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) SNV Pathogenic 1068 rs121918197 16:53720424-53720424 16:53686512-53686512
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) SNV Pathogenic 1069 rs121918198 16:53686756-53686756 16:53652844-53652844
12 RPGRIP1L NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) SNV Pathogenic 1070 rs121918199 16:53720364-53720364 16:53686452-53686452
13 RPGRIP1L NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) SNV Pathogenic 1071 rs121918200 16:53686516-53686516 16:53652604-53652604
14 RPGRIP1L RPGRIP1L, 1-BP DEL, 1721A Deletion Pathogenic 1075
15 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
16 RPGRIP1L NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) Deletion Pathogenic 1077 rs387906243 16:53682911-53682911 16:53648999-53648999
17 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) SNV Pathogenic 438669 rs1555616593 16:53730175-53730175 16:53696263-53696263
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV Likely pathogenic 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
20 RPGRIP1L NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) SNV Likely pathogenic 635022 rs1567800920 16:53652959-53652959 16:53619047-53619047
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) Microsatellite Likely pathogenic 208609 rs797045104 16:53656262-53656263 16:53622350-53622351
22 RPGRIP1L NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) Duplication Likely pathogenic 212060 rs797045918 16:53698866-53698867 16:53664954-53664955
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) SNV Likely pathogenic 931822 16:53720370-53720370 16:53686458-53686458
24 RPGRIP1L NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) SNV Likely pathogenic 931963 16:53686795-53686795 16:53652883-53652883
25 RPGRIP1L NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) SNV Likely pathogenic 931964 16:53679660-53679660 16:53645748-53645748
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) SNV Uncertain significance 887796 16:53686637-53686637 16:53652725-53652725
27 RPGRIP1L NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) SNV Uncertain significance 166909 rs142349647 16:53682940-53682940 16:53649028-53649028
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) SNV Uncertain significance 319656 rs886052096 16:53679655-53679655 16:53645743-53645743
29 RPGRIP1L NM_015272.5(RPGRIP1L):c.*270G>A SNV Uncertain significance 319641 rs549065732 16:53635718-53635718 16:53601806-53601806
30 RPGRIP1L NM_015272.5(RPGRIP1L):c.-7-10T>C SNV Uncertain significance 319671 rs886052099 16:53734652-53734652 16:53700740-53700740
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) SNV Uncertain significance 319647 rs377402117 16:53636097-53636097 16:53602185-53602185
32 RPGRIP1L NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) SNV Uncertain significance 235333 rs148230131 16:53686863-53686863 16:53652951-53652951
33 RPGRIP1L NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) SNV Uncertain significance 286978 rs147366111 16:53690401-53690401 16:53656489-53656489
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.*875A>G SNV Uncertain significance 319633 rs886052088 16:53635113-53635113 16:53601201-53601201
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.*626A>C SNV Uncertain significance 319636 rs886052089 16:53635362-53635362 16:53601450-53601450
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.*269C>T SNV Uncertain significance 319642 rs190566840 16:53635719-53635719 16:53601807-53601807
37 RPGRIP1L NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) SNV Uncertain significance 319655 rs141608712 16:53679538-53679538 16:53645626-53645626
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1309C>A SNV Uncertain significance 319628 rs145688896 16:53634679-53634679 16:53600767-53600767
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) SNV Uncertain significance 319660 rs117364872 16:53682979-53682979 16:53649067-53649067
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.*980T>C SNV Uncertain significance 319631 rs886052087 16:53635008-53635008 16:53601096-53601096
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1482G>A SNV Uncertain significance 319627 rs192765976 16:53634506-53634506 16:53600594-53600594
42 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1584G>T SNV Uncertain significance 319626 rs151226475 16:53634404-53634404 16:53600492-53600492
43 RPGRIP1L NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) SNV Uncertain significance 319666 rs182207372 16:53726204-53726204 16:53692292-53692292
44 RPGRIP1L NM_015272.5(RPGRIP1L):c.*698T>C SNV Uncertain significance 319635 rs545786772 16:53635290-53635290 16:53601378-53601378
45 RPGRIP1L NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) SNV Uncertain significance 319654 rs886052095 16:53674977-53674977 16:53641065-53641065
46 RPGRIP1L NM_015272.5(RPGRIP1L):c.*506T>G SNV Uncertain significance 319638 rs778362441 16:53635482-53635482 16:53601570-53601570
47 RPGRIP1L NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) SNV Uncertain significance 260599 rs775153934 16:53679562-53679562 16:53645650-53645650
48 RPGRIP1L NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) SNV Uncertain significance 319663 rs76600508 16:53692703-53692703 16:53658791-53658791
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1883C>G SNV Uncertain significance 319623 rs886052086 16:53634105-53634105 16:53600193-53600193
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1207G>A SNV Uncertain significance 319629 rs561880798 16:53634781-53634781 16:53600869-53600869

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 7:

73
# Symbol AA change Variation ID SNP ID
1 RPGRIP1L p.Thr615Pro VAR_039393 rs121918198
2 RPGRIP1L p.Thr677Ile VAR_039394 rs532768944
3 RPGRIP1L p.Ala695Pro VAR_039395 rs121918200
4 RPGRIP1L p.Gln550Arg VAR_069234 rs772900011
5 RPGRIP1L p.Glu393Lys VAR_076824 rs375776718
6 RPGRIP1L p.Cys633Arg VAR_076825 rs898062661

Expression for Joubert Syndrome 7

Search GEO for disease gene expression data for Joubert Syndrome 7.

Pathways for Joubert Syndrome 7

GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.26 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L PKD2 NPHP1
2 cytoskeleton GO:0005856 10.07 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1
3 centrosome GO:0005813 9.98 TRAF3IP1 TMEM67 RPGRIP1L MKS1 CEP290 B9D2
4 ciliary basal body GO:0036064 9.87 TRAF3IP1 RPGRIP1L PKD2 MKS1 CEP290 B9D2
5 ciliary transition zone GO:0035869 9.81 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 MKS1
6 cell-cell junction GO:0005911 9.8 RPGRIP1L PKD2 NPHP1 AHI1
7 MKS complex GO:0036038 9.8 TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
8 axoneme GO:0005930 9.78 TRAF3IP1 RPGRIP1L RPGRIP1 ARL13B
9 cell projection GO:0042995 9.77 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 PKD2
10 photoreceptor connecting cilium GO:0032391 9.76 RPGRIP1L RPGRIP1 NPHP1 CEP290
11 motile cilium GO:0031514 9.72 PKD2 NPHP1 ARL13B
12 centriole GO:0005814 9.71 MKS1 CEP290 AHI1
13 non-motile cilium GO:0097730 9.71 RPGRIP1 PKD2 ARL13B AHI1
14 ciliary membrane GO:0060170 9.69 TMEM67 PKD2 ARL13B
15 cilium GO:0005929 9.44 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 PKD2

Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.81 TRAF3IP1 TMEM67 TMEM216 NPHP1 MKS1 CEP290
2 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L RPGRIP1 MKS1 CC2D2A ARL13B
3 determination of left/right symmetry GO:0007368 9.72 RPGRIP1L PKD2 MKS1 CC2D2A ARL13B
4 kidney development GO:0001822 9.67 TRAF3IP1 RPGRIP1L PKD2 CC2D2A
5 ciliary basal body-plasma membrane docking GO:0097711 9.61 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
6 heart looping GO:0001947 9.58 PKD2 ARL13B AHI1
7 motile cilium assembly GO:0044458 9.57 MKS1 CC2D2A
8 regulation of smoothened signaling pathway GO:0008589 9.56 RPGRIP1L MKS1
9 hindbrain development GO:0030902 9.55 CEP290 AHI1
10 head development GO:0060322 9.54 RPGRIP1L MKS1
11 eye photoreceptor cell development GO:0042462 9.52 RPGRIP1 CEP290
12 embryonic brain development GO:1990403 9.51 MKS1 CC2D2A
13 left/right axis specification GO:0070986 9.49 ARL13B AHI1
14 retinal rod cell development GO:0046548 9.48 RPGRIP1L RPGRIP1
15 neural tube patterning GO:0021532 9.46 RPGRIP1L ARL13B
16 morphogenesis of a polarized epithelium GO:0001738 9.43 TRAF3IP1 AHI1
17 cilium assembly GO:0060271 9.32 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290

Sources for Joubert Syndrome 7

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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