Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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