ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Osteogenesis imperfecta, Levin type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		0.810 GeneticVariation BEFREE Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. 15124103 2004
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		0.810 GeneticVariation UNIPROT
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		G 0.810 CausalMutation CLINVAR
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		C 0.810 CausalMutation CLINVAR