IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037869
rs886037869
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
CUI: C4310718
Disease:
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.700 GeneticVariation UNIPROT IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 27466190 2016
dbSNP: rs886037869
rs886037869
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
CUI: C4310718
Disease:
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.700 GeneticVariation UNIPROT A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016
dbSNP: rs886037869
rs886037869
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886037870
rs886037870
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
CUI: C0036996
Disease:
Short Rib-Polydactyly Syndrome 		C 0.700 GeneticVariation CLINVAR