Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.100 CausalMutation CLINVAR