Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 Biomarker disease BEFREE Our in vivo and in vitro analyses of CEP104 define its interaction with CSPP1 as a requirement for the formation of Hedgehog signaling-competent cilia, defects that underlie Joubert syndrome. 31412255 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 Biomarker disease BEFREE Homozygous mutations in one of these genes (CSPP1) has recently been recently described as causing Joubert syndrome. 25693585 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 Biomarker disease GENOMICS_ENGLAND 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 GeneticVariation disease BEFREE Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 GeneticVariation disease BEFREE 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 GermlineCausalMutation disease 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 Biomarker disease GENOMICS_ENGLAND 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.550 GermlineCausalMutation disease 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
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 24360803 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 CausalMutation disease CLINVAR Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.400 GeneticVariation disease CLINVAR
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.400 GermlineCausalMutation disease ORPHANET
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 GeneticVariation disease CLINVAR
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.300 Biomarker disease GENOMICS_ENGLAND 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
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 24360803 2014