Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.780 GermlineCausalMutation ORPHANET INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216

2009

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.700 GermlineCausalMutation ORPHANET Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042

2012

Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.690 GermlineCausalMutation ORPHANET Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042

2012

Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.690 GermlineCausalMutation ORPHANET Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS. 22425360

2012

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.680 GermlineCausalMutation ORPHANET The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906

2007

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.670 GermlineCausalMutation ORPHANET To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. 26096313

2015

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.660 GermlineCausalMutation ORPHANET Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560

2014

Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.620 GermlineCausalMutation ORPHANET An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015

Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.610 GermlineCausalMutation ORPHANET Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307

2011

Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.600 GermlineCausalMutation ORPHANET Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 21565611

2011

Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.550 GermlineCausalMutation ORPHANET In summary, CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown. 24360808

2014

Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.550 GermlineCausalMutation ORPHANET Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele. 24360803

2014

Entrez Id: 9731
Gene Symbol: CEP104
CEP104
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.530 GermlineCausalMutation ORPHANET Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166*]) and a de novo splice-site mutation (c.2572-2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs*3]) in CEP104. 26477546

2015

Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.520 GermlineCausalMutation ORPHANET In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder. 28625504

2017

Entrez Id: 95681
Gene Symbol: CEP41
CEP41
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.520 GermlineCausalMutation ORPHANET Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503

2012

Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.510 GermlineCausalMutation ORPHANET We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life.The proband has Joubert syndrome (JS). 26830932

2016

Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.510 GermlineCausalMutation ORPHANET Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042

2012

Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.510 GermlineCausalMutation ORPHANET TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 22152675

2011

Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.500 GermlineCausalMutation ORPHANET We identified mutations in ARL13B in two families with the classical form of JS. 18674751

2008

Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.430 GermlineCausalMutation ORPHANET Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. 26714646

2015

Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.400 GermlineCausalMutation ORPHANET Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560

2014

Entrez Id: 403
Gene Symbol: ARL3
ARL3
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.330 GermlineCausalMutation ORPHANET ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. 30269812

2018

Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.330 GermlineCausalMutation ORPHANET The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. 27208211

2016