Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
0.110 GeneticVariation disease BEFREE 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: 79848
Gene Symbol: CSPP1
CSPP1
0.110 Biomarker disease HPO