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 56 12 73 29 13 6 43 15 71
Jbts7 56 12 73
Cerebello-Oculo-Renal Syndrome 3 73
Joubert Syndrome, Type 7 39
Cors3 73

Characteristics:

OMIM:

56
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 ciliopathy and cone-rod dystrophy 13, 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 global developmental delay

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

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 10.3 TMEM67 RPGRIP1L
2 cone-rod dystrophy 13 10.3 RPGRIP1L RPGRIP1
3 retinal ciliopathy 10.3 RPGRIP1 CEP290
4 joubert syndrome 15 10.3 RPGRIP1L NPHP1
5 retinal aplasia 10.2 NPHP1 CEP290
6 leber congenital amaurosis 10 10.2 RPGRIP1 CEP290
7 leber congenital amaurosis 3 10.2 RPGRIP1 CEP290
8 nephronophthisis 13 10.2 NPHP1 CEP290
9 nephronophthisis 12 10.1 NPHP1 CEP290
10 retinitis pigmentosa 34 10.1 RPGRIP1 OFD1
11 cerebellar hypoplasia 10.1 TMEM67 RPGRIP1L CC2D2A
12 orofaciodigital syndrome i 10.1 OFD1 CEP290
13 alstrom syndrome 10.1 RPGRIP1L NPHP1 CEP290
14 simpson-golabi-behmel syndrome, type 2 10.1 OFD1 CEP290
15 nephronophthisis 4 10.0 RPGRIP1 NPHP1
16 leber congenital amaurosis 4 10.0 RPGRIP1 CEP290
17 bardet-biedl syndrome 13 10.0 MKS1 CEP290
18 arima syndrome 10.0 TMEM216 CEP290 CC2D2A
19 orofaciodigital syndrome iv 10.0 TMEM216 OFD1
20 retinitis pigmentosa 2 10.0 CEP290 ARL13B
21 cogan syndrome 10.0 NPHP1 CEP290 AHI1
22 bardet-biedl syndrome 11 10.0 MKS1 CEP290
23 polydactyly 10.0 MKS1 CEP290 CC2D2A
24 asphyxiating thoracic dystrophy 10.0 RPGRIP1L CEP290 ARL13B
25 bardet-biedl syndrome 6 9.9 RPGRIP1L MKS1 CEP290
26 leber congenital amaurosis 6 9.9 RPGRIP1 MKS1 CEP290
27 joubert syndrome 14 9.9 TMEM216 B9D2
28 retinitis pigmentosa 28 9.9 OFD1 CEP290
29 oligohydramnios 9.9 TMEM67 MKS1 CC2D2A
30 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
31 oculomotor apraxia 9.9 NPHP1 ARL13B AHI1
32 renal-hepatic-pancreatic dysplasia 9.9 OFD1 NPHP1 CEP290
33 kidney disease 9.9 TMEM67 NPHP1 CEP290 AHI1
34 johanson-blizzard syndrome 9.8 TMEM216 RPGRIP1L CEP290 CC2D2A
35 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 MKS1 ARL13B
36 nephronophthisis 1 9.8 NPHP1 B9D2 AHI1
37 meckel syndrome, type 7 9.8 TMEM216 CC2D2A B9D2
38 bardet-biedl syndrome 8 9.8 MKS1 CEP290
39 acrocallosal syndrome 9.6 TMEM216 RPGRIP1L OFD1 AHI1
40 retinal degeneration 9.6 TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
41 nephronophthisis 19 9.6 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
42 bardet-biedl syndrome 3 9.6 MKS1 CEP290
43 joubert syndrome 24 9.5 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
44 pathologic nystagmus 9.5 TMEM67 RPGRIP1 MKS1 CEP290 AHI1
45 nephronophthisis 16 9.5 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
46 meckel syndrome, type 8 9.4 TMEM67 TMEM216 RPGRIP1L CC2D2A B9D2
47 nephronophthisis 11 9.4 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48 apraxia 9.3 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 AHI1
49 nephronophthisis 7 9.3 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
50 encephalocele 9.3 TMEM67 MKS1 CEP290 CC2D2A B9D2

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 global developmental delay 31 HP:0001263
3 scoliosis 31 HP:0002650
4 ataxia 31 HP:0001251
5 nystagmus 31 HP:0000639
6 ptosis 31 HP:0000508
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:

56
Skeletal Spine:
scoliosis

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

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Neurologic Central Nervous System:
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
mental retardation
more
Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM:

611560

UMLS symptoms related to Joubert Syndrome 7:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
2 growth/size/body region MP:0005378 10.06 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
3 embryo MP:0005380 10.03 ARL13B B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
4 nervous system MP:0003631 10.03 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
5 craniofacial MP:0005382 10.02 B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
6 mortality/aging MP:0010768 10.02 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
7 digestive/alimentary MP:0005381 9.93 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
8 limbs/digits/tail MP:0005371 9.91 B9D2 CC2D2A MKS1 OFD1 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 OFD1
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 56
18565097 2008
2
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 56 6
17558407 2007
3
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6 56
17558409 2007
4
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
7
Joubert Syndrome 6
20301500 2003

Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

6 (show top 50) (show all 150) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGRIP1L NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)SNV Pathogenic 438669 rs1555616593 16:53730175-53730175 16:53696263-53696263
2 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)SNV Pathogenic 1069 rs121918198 16:53686756-53686756 16:53652844-53652844
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)SNV Pathogenic 1070 rs121918199 16:53720364-53720364 16:53686452-53686452
4 RPGRIP1L NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)SNV Pathogenic 1071 rs121918200 16:53686516-53686516 16:53652604-53652604
5 RPGRIP1L RPGRIP1L, 1-BP DEL, 1721Adeletion Pathogenic 1075
6 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
7 RPGRIP1L NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)deletion Pathogenic 1077 rs387906243 16:53682911-53682911 16:53648999-53648999
8 RPGRIP1L NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)SNV Pathogenic 1079 rs145665129 16:53679807-53679807 16:53645895-53645895
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)SNV Pathogenic 1080 rs267607020 16:53686624-53686624 16:53652712-53652712
10 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.3701+1G>TSNV Pathogenic 217695 rs863225219 16:53644878-53644878 16:53610966-53610966
12 RPGRIP1L NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)SNV Pathogenic 217694 rs778533826 16:53653024-53653024 16:53619112-53619112
13 RPGRIP1L NM_015272.5(RPGRIP1L):c.2305-1G>ASNV Pathogenic 217690 rs863225215 16:53679916-53679916 16:53646004-53646004
14 RPGRIP1L NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)deletion Pathogenic 217691 rs863225216 16:53686878-53686878 16:53652966-53652966
15 RPGRIP1L NM_015272.5(RPGRIP1L):c.1243+1G>ASNV Pathogenic 217693 rs863225218 16:53698781-53698781 16:53664869-53664869
16 RPGRIP1L NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)deletion Pathogenic 217692 rs863225217 16:53698893-53698893 16:53664981-53664981
17 RPGRIP1L NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)duplication Likely pathogenic 212060 rs797045918 16:53698866-53698867 16:53664954-53664955
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)short repeat Likely pathogenic 208609 rs797045104 16:53656262-53656263 16:53622350-53622351
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)SNV Likely pathogenic 635022 rs1567800920 16:53652959-53652959 16:53619047-53619047
20 RPGRIP1L NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)SNV Conflicting interpretations of pathogenicity 95691 rs144313291 16:53674978-53674978 16:53641066-53641066
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.2153-4G>CSNV Conflicting interpretations of pathogenicity 95689 rs201380599 16:53683031-53683031 16:53649119-53649119
22 RPGRIP1L NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)SNV Conflicting interpretations of pathogenicity 166909 rs142349647 16:53682940-53682940 16:53649028-53649028
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)SNV Conflicting interpretations of pathogenicity 167607 rs146902870 16:53656191-53656191 16:53622279-53622279
24 RPGRIP1L NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)SNV Conflicting interpretations of pathogenicity 212064 rs140067659 16:53721875-53721875 16:53687963-53687963
25 RPGRIP1L NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)SNV Conflicting interpretations of pathogenicity 194767 rs139503476 16:53679577-53679577 16:53645665-53645665
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)SNV Conflicting interpretations of pathogenicity 212062 rs146197239 16:53675264-53675264 16:53641352-53641352
27 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)SNV Conflicting interpretations of pathogenicity 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)SNV Conflicting interpretations of pathogenicity 530906 rs141201084 16:53686895-53686895 16:53652983-53652983
29 RPGRIP1L NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)SNV Conflicting interpretations of pathogenicity 423510 rs79524027 16:53690423-53690423 16:53656511-53656511
30 RPGRIP1L NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)SNV Conflicting interpretations of pathogenicity 700570 16:53672272-53672272 16:53638360-53638360
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)SNV Conflicting interpretations of pathogenicity 699752 16:53730098-53730098 16:53696186-53696186
32 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1033G>ASNV Conflicting interpretations of pathogenicity 886238 16:53634955-53634955 16:53601043-53601043
33 RPGRIP1L NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)SNV Conflicting interpretations of pathogenicity 241026 rs142317242 16:53652991-53652991 16:53619079-53619079
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)SNV Conflicting interpretations of pathogenicity 260608 rs138724933 16:53644956-53644956 16:53611044-53611044
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)SNV Conflicting interpretations of pathogenicity 260607 rs886038619 16:53653102-53653102 16:53619190-53619190
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)SNV Conflicting interpretations of pathogenicity 260604 rs568801926 16:53656251-53656251 16:53622339-53622339
37 RPGRIP1L NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)SNV Conflicting interpretations of pathogenicity 260599 rs775153934 16:53679562-53679562 16:53645650-53645650
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)SNV Conflicting interpretations of pathogenicity 260597 rs147295026 16:53705453-53705453 16:53671541-53671541
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)SNV Conflicting interpretations of pathogenicity 281767 rs61742381 16:53679547-53679547 16:53645635-53645635
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.3616+7A>GSNV Conflicting interpretations of pathogenicity 283822 rs373003699 16:53652930-53652930 16:53619018-53619018
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)SNV Conflicting interpretations of pathogenicity 319665 rs202149647 16:53726063-53726063 16:53692151-53692151
42 RPGRIP1L NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)SNV Conflicting interpretations of pathogenicity 319666 rs182207372 16:53726204-53726204 16:53692292-53692292
43 RPGRIP1L NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)SNV Conflicting interpretations of pathogenicity 235423 rs79708859 16:53698860-53698860 16:53664948-53664948
44 RPGRIP1L NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)SNV Conflicting interpretations of pathogenicity 319661 rs141979202 16:53686639-53686639 16:53652727-53652727
45 RPGRIP1L NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)SNV Conflicting interpretations of pathogenicity 319655 rs141608712 16:53679538-53679538 16:53645626-53645626
46 RPGRIP1L NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)SNV Conflicting interpretations of pathogenicity 319670 rs146925098 16:53730122-53730122 16:53696210-53696210
47 RPGRIP1L NM_015272.5(RPGRIP1L):c.3220+13T>CSNV Conflicting interpretations of pathogenicity 389310 rs376659273 16:53671594-53671594 16:53637682-53637682
48 RPGRIP1L NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)SNV Uncertain significance 319664 rs144023021 16:53705440-53705440 16:53671528-53671528
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)SNV Uncertain significance 319668 rs151212590 16:53726256-53726256 16:53692344-53692344
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)SNV Uncertain significance 319667 rs886052098 16:53726214-53726214 16:53692302-53692302

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 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
2 cytosol GO:0005829 10.21 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3 cytoskeleton GO:0005856 10.11 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
4 centrosome GO:0005813 10.01 TRAF3IP1 TMEM67 RPGRIP1L OFD1 MKS1 CEP290
5 ciliary basal body GO:0036064 9.87 TRAF3IP1 RPGRIP1L OFD1 MKS1 CEP290 B9D2
6 microtubule organizing center GO:0005815 9.83 RPGRIP1L OFD1 MKS1 CEP290
7 centriole GO:0005814 9.8 OFD1 MKS1 CEP290 AHI1
8 MKS complex GO:0036038 9.8 TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
9 cell projection GO:0042995 9.77 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 OFD1
10 axoneme GO:0005930 9.76 TRAF3IP1 RPGRIP1L RPGRIP1 ARL13B
11 ciliary transition zone GO:0035869 9.76 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290
12 photoreceptor connecting cilium GO:0032391 9.73 RPGRIP1L RPGRIP1 NPHP1 CEP290
13 cell-cell junction GO:0005911 9.72 RPGRIP1L NPHP1 AHI1
14 motile cilium GO:0031514 9.71 OFD1 NPHP1 ARL13B
15 non-motile cilium GO:0097730 9.65 RPGRIP1 ARL13B AHI1
16 cilium GO:0005929 9.44 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 OFD1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 determination of left/right symmetry GO:0007368 9.67 RPGRIP1L MKS1 CC2D2A ARL13B
3 non-motile cilium assembly GO:1905515 9.65 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4 cell projection organization GO:0030030 9.65 TRAF3IP1 TMEM67 TMEM216 OFD1 NPHP1 MKS1
5 motile cilium assembly GO:0044458 9.55 MKS1 CC2D2A
6 regulation of smoothened signaling pathway GO:0008589 9.54 RPGRIP1L MKS1
7 axoneme assembly GO:0035082 9.52 OFD1 CC2D2A
8 hindbrain development GO:0030902 9.51 CEP290 AHI1
9 neural tube patterning GO:0021532 9.5 TRAF3IP1 RPGRIP1L ARL13B
10 head development GO:0060322 9.49 RPGRIP1L MKS1
11 eye photoreceptor cell development GO:0042462 9.48 RPGRIP1 CEP290
12 embryonic brain development GO:1990403 9.46 MKS1 CC2D2A
13 left/right axis specification GO:0070986 9.43 ARL13B AHI1
14 morphogenesis of a polarized epithelium GO:0001738 9.4 TRAF3IP1 AHI1
15 cilium assembly GO:0060271 9.36 TRAF3IP1 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1

Molecular functions related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 OFD1 B9D2

Sources for Joubert Syndrome 7

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....