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GENE - TERM ANNOTATION REPORT

CRRD ID: 1604786
Species: Homo sapiens
CRRD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:0050777
Term: Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Joubert_syndrome, http://omim.org/entry/213300?search=joubert&highlight=joubert, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:100479368554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:100486018554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:100486758554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:26467025, PMID:28492532
 IAGPRGD:100488128554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:100505248554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:100518248554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:100520438554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:100528528554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:104056578554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:104080698554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:104080898554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:104081118554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:104486928554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:26092869, PMID:28492532
 IAGPRGD:104487268554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:26092869, PMID:28492532
 IAGPRGD:104488008554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:26047050, PMID:26092869, PMID:27491411, PMID:28492532
 IAGPRGD:104499128554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:107679878554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:113455578554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:17345604, PMID:20690115, PMID:23847139, PMID:28492532
 IAGPRGD:113456488554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:113473268554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:113474218554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:113485028554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:113487888554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:115258188554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:115443508554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:115444168554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:115463068554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:115524928554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:115583208554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:115774708554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868
 IAGPRGD:115777858554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:115783968554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:115798118554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17345604, PMID:26673778, PMID:28492532
 IAGPRGD:116009438554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:116013238554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116024438554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:116028468554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116033768554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116063208554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116066578554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116108858554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116124598554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116134828554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116137658554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116137868554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116139348554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116143888554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:116145668554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116145708554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116148218554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116148328554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116148558554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116151308554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:116153938554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:116156718554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116158528554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116159608554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116168628554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116172918554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116176908554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116180128554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116180168554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116181628554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116182058554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116182078554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116187348554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116190538554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116192808554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116206058554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116207468554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116215518554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116221528554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116232968554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116234018554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:116260978554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:28492532
 IAGPRGD:116336958554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:116352428554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116355578554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116443048554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116447848554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116461968554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116464158554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116488158554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116495028554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116500658554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116504948554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116507938554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116513548554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116527018554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:116541718554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:127390548554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:127426558554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:128355838554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:128465108554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:128484348554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:128848448554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:129008858554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:21493627, PMID:28492532
 IAGPRGD:129016298554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:132121838554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:17345604, PMID:20690115, PMID:28492532
 IAGPRGD:132170688554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:134362288554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:17345604, PMID:17617513, PMID:20690115, PMID:21153841, PMID:25741868, PMID:28492532
 IAGPRGD:134654648554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134702958554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134716878554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134744178554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134750488554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134798058554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134808208554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:134835528554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:134890448554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134898018554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134903188554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134905518554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134913368554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134947948554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134957878554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:134988898554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:135013598554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:135039828554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:135156108554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:135223418554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136056238554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136056248554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136056258554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136056268554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136112998554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:23559409, PMID:28492532
 IAGPRGD:136212378554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:22355252, PMID:25097241, PMID:25741868, PMID:28492532
 IAGPRGD:136212388554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212418554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212438554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212458554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212498554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212538554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17564967, PMID:28492532
 IAGPRGD:136212548554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:17345604, PMID:20690115, PMID:28492532
 IAGPRGD:136212558554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212578554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:136212598554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138048298554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138085318554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138094188554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138107418554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138108878554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138131448554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138145588554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138153708554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138171968554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:138190258554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17345604, PMID:17409309, PMID:21153841, PMID:26092869, PMID:26673778, PMID:28492532
 IAGPRGD:138211958554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:85911328554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17564967, PMID:25741868, PMID:28492532
 IAGPRGD:85911348554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:26467025, PMID:28492532
 IAGPRGD:85911358554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:85911368554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:85911398554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16682973, PMID:17345604, PMID:18414213, PMID:21245082, PMID:22355252, PMID:25920555, PMID:26092869, PMID:28492532
 IAGPRGD:85911408554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:18414213, PMID:28492532
 IAGPRGD:85911428554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:85911438554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:85911478554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:85911548554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:85953778554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:16682970, PMID:16682973, PMID:17564967, PMID:18414213, PMID:25741868, PMID:26092869, PMID:28492532
 IAGPRGD:85953798554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:23344081, PMID:25741868, PMID:28492532
 IAGPRGD:86174588554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:21068128, PMID:28492532
 IAGPRGD:86174618554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17564974, PMID:19466712, PMID:19764032, PMID:26092869, PMID:28492532
 IAGPRGD:86174668554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085
 IAGPRGD:86174678554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643
 IAGPRGD:86349278554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:86430798554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:26467025
 IAGPRGD:86430818554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:86430838554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:18414213, PMID:25741868, PMID:28492532
 IAGPRGD:86463308554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:16909394, PMID:20079931, PMID:23188109, PMID:23559409, PMID:28492532, PMID:28497568
 IAGPRGD:86469518554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:86904798554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:86904808554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:86904818554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:86904828554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868, PMID:28492532
 IAGPRGD:95893248554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25445212, PMID:28492532
 IAGPRGD:96883328554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:96886088554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:96927768554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
 IAGPRGD:96927778554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

 
 IAGPRGD:96927788554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868
 IAGPRGD:96927818554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:96927828554872ClinVarClinVar Annotator: match by term: Joubert Syndrome and Related Disorders

PMID:25741868
 IAGPRGD:96927848554872ClinVarClinVar Annotator: match by term: Joubert syndrome

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.