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: rs137853312
rs137853312
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 16596676 2006
dbSNP: rs137853312
rs137853312
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 16835913 2006
dbSNP: rs137853312
rs137853312
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 15523633 2005