FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Melnick-Needles Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853317
rs137853317
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 GeneticVariation CLINVAR A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 17264970 2007
dbSNP: rs137853317
rs137853317
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 GeneticVariation CLINVAR Molecular pathology of filamin A: diverse phenotypes, many functions. 15194946 2004
dbSNP: rs137853317
rs137853317
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 GeneticVariation CLINVAR Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003