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: 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